المؤلفون: Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA.

المصدر: Science (N. Y., N.Y.) 342 (2013). doi:10.1126/science.1235587.
info:cnr-pdr/source/autori:Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, McVean GA./titolo:Integrative annotation of variants from 1092 humans: application to cancer genomics./doi:10.1126%2Fscience.1235587./rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:342

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::f300f0f6e6187581aa2da4a204fdd6a1

المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL

المساهمون: 1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, Lander, Eric S.

المصدر: Nature
Nature, Vol. 491, No 7422 (2012) pp. 56-65
Dipòsit Digital de la UB
Universidad de Barcelona
Nature: international weekly journal of science
Recercat. Dipósit de la Recerca de Catalunya
instname
Genome Biology

مصطلحات موضوعية: Natural selection, LOCI, Genome-wide association study, Evolutionary biology, Continental Population Groups/genetics, Human genetic variation, VARIANTS, Genoma humà, Binding Sites/genetics, 0302 clinical medicine, RARE, Sequence Deletion/genetics, WIDE ASSOCIATION, ddc:576.5, Copy-number variation, MUTATION, Exome sequencing, transcription factor, Conserved Sequence, Human evolution, Sequence Deletion, Genetics, RISK, 0303 health sciences, Multidisciplinary, Continental Population Groups, 1000 Genomes Project Consortium, Genetic analysis, Genomics, Polymorphism, Single Nucleotide/genetics, Research Highlight, 3. Good health, Algorithm, Multidisciplinary Sciences, Genetic Variation/genetics, Map, Science & Technology - Other Topics, Conserved Sequence/genetics, Integrated approach, General Science & Technology, Genetics, Medical, Haplotypes/genetics, Biology, Polymorphism, Single Nucleotide, Evolution, Molecular, 03 medical and health sciences, Genetic variation, Humans, Transcription Factors/metabolism, POPULATION-STRUCTURE, 1000 Genomes Project, Polymorphism, Nucleotide Motifs, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, Science & Technology, Binding Sites, Human genome, Genome, Human, Racial Groups, Genetic Variation, Genetics, Population, Haplotypes, Genome, Human/genetics, untranslated RNA, 030217 neurology & neurosurgery, Transcription Factors, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ca5122d8c3abb786fb2df1c7f65284
https://serval.unil.ch/resource/serval:BIB_5BC1B19DB11D.P001/REF.pdf

المؤلفون: Humphrey J; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. jack.humphrey@mssm.edu.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA. jack.humphrey@mssm.edu.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. jack.humphrey@mssm.edu.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. jack.humphrey@mssm.edu., Venkatesh S; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Psychiatry, Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hasan R; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Herb JT; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., de Paiva Lopes K; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Küçükali F; Complex Genetics of Alzheimer's Disease Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Byrska-Bishop M; New York Genome Center, New York, NY, USA., Evani US; New York Genome Center, New York, NY, USA., Narzisi G; New York Genome Center, New York, NY, USA., Fagegaltier D; New York Genome Center, New York, NY, USA.; Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY, USA., Sleegers K; Complex Genetics of Alzheimer's Disease Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Phatnani H; New York Genome Center, New York, NY, USA.; Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, Columbia University, New York, NY, USA., Knowles DA; New York Genome Center, New York, NY, USA.; Department of Computer Science, Columbia University, New York, NY, USA., Fratta P; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Raj T; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. towfique.raj@mssm.edu.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA. towfique.raj@mssm.edu.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. towfique.raj@mssm.edu.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. towfique.raj@mssm.edu.

مؤلفون مشاركون: NYGC ALS Consortium

المصدر: Nature neuroscience [Nat Neurosci] 2023 Jan; Vol. 26 (1), pp. 150-162. Date of Electronic Publication: 2022 Dec 08.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Neurodegenerative Diseases*/metabolism, Humans ; Retrospective Studies ; Transcriptome ; Spinal Cord/metabolism

المؤلفون: Byrska-Bishop M; New York Genome Center, New York, NY 10013, USA. Electronic address: mbyrska-bishop@nygenome.org., Evani US; New York Genome Center, New York, NY 10013, USA., Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Basile AO; New York Genome Center, New York, NY 10013, USA., Abel HJ; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Corvelo A; New York Genome Center, New York, NY 10013, USA., Clarke WE; New York Genome Center, New York, NY 10013, USA; Outlier Informatics Inc., Saskatoon, SK S7H 1L4, Canada., Musunuri R; New York Genome Center, New York, NY 10013, USA., Nagulapalli K; New York Genome Center, New York, NY 10013, USA., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Runnels A; New York Genome Center, New York, NY 10013, USA., Winterkorn L; New York Genome Center, New York, NY 10013, USA., Lowy E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Paul Flicek; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Germer S; New York Genome Center, New York, NY 10013, USA., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hall IM; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Center for Genomic Health, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Narzisi G; New York Genome Center, New York, NY 10013, USA., Zody MC; New York Genome Center, New York, NY 10013, USA. Electronic address: mczody@nygenome.org.

مؤلفون مشاركون: Human Genome Structural Variation Consortium

المصدر: Cell [Cell] 2022 Sep 01; Vol. 185 (18), pp. 3426-3440.e19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Whole Genome Sequencing*, Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; INDEL Mutation ; Male ; Polymorphism, Single Nucleotide

المؤلفون: Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA., Harris L; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA., Khan Z; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Farek J; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Stankovic A; Seven Bridges, Omladinskih brigada 90g, 11070 Belgrade, Republic of Serbia., Kovacevic V; Seven Bridges, Omladinskih brigada 90g, 11070 Belgrade, Republic of Serbia., Yoo B; Children's Mercy Kansas City, Kansas City, MO, USA., Miller N; Children's Mercy Kansas City, Kansas City, MO, USA., Rosenfeld JA; Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA., Ni B; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Narzisi G; New York Genome Center, 101 Avenue of the Americas, New York, NY, USA., Byrska-Bishop M; New York Genome Center, 101 Avenue of the Americas, New York, NY, USA., Clarke W; New York Genome Center, 101 Avenue of the Americas, New York, NY, USA., Evani US; New York Genome Center, 101 Avenue of the Americas, New York, NY, USA., Markello C; University of California at Santa Cruz Genomics Institute, 1156 High Street, Santa Cruz, CA, USA., Shafin K; University of California at Santa Cruz Genomics Institute, 1156 High Street, Santa Cruz, CA, USA., Zhou X; Department of Computer Science, Stanford University, Stanford, CA 94305, USA., Sidow A; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Bansal V; Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA., Ebert P; Institute of Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Marschall T; Institute of Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Lansdorp P; Institute of Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Hanlon V; Terry Fox Laboratory, BC Cancer Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Mattsson CA; Terry Fox Laboratory, BC Cancer Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Barrio AM; 10X Genomics, Pleasanton, CA 94588, USA., Fiddes IT; 10X Genomics, Pleasanton, CA 94588, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA., Fungtammasan A; DNAnexus, Inc., Mountain View, CA 94040, USA., Chin CS; DNAnexus, Inc., Mountain View, CA 94040, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA 94025, USA., Rowell WJ; Pacific Biosciences, Menlo Park, CA 94025, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Carroll A; Google Inc., 1600 Amphitheatre Pkwy., Mountain View, CA 94040, USA., Salit M; Joint Initiative for Metrology in Biology, SLAC National Laboratory, Stanford, CA, USA.; Senior author., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8312, Gaithersburg, MD 20899, USA.; Senior author.; Lead contact.

المصدر: Cell genomics [Cell Genom] 2022 May; Vol. 2 (5).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE

المؤلفون: Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Harris L; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., McDaniel J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Cheng H; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., Fungtammasan A; DNAnexus, Inc., Mountain View, CA, USA., Hwang YC; DNAnexus, Inc., Mountain View, CA, USA., Gupta R; DNAnexus, Inc., Mountain View, CA, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Rowell WJ; Pacific Biosciences, Menlo Park, CA, USA., Khan ZM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Farek J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Zhu Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Pisupati A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Yoo B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Sahraeian SME; Roche Sequencing Solutions, Santa Clara, CA, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Jáspez D; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain., Lorenzo-Salazar JM; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain., Muñoz-Barrera A; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain., Rubio-Rodríguez LA; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain., Flores C; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.; Research Unit, Hospital Universitario N.S. de Candelaria, Santa Cruz de Tenerife, Spain., Narzisi G; New York Genome Center, New York, NY, USA., Evani US; New York Genome Center, New York, NY, USA., Clarke WE; New York Genome Center, New York, NY, USA., Lee J; Bionano Genomics, San Diego, CA, USA., Mason CE; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Lincoln SE; Invitae, San Francisco, CA, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA., Ebbert MTW; Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.; Department of Internal Medicine, Division of Biomedical Informatics, University of Kentucky, Lexington, KY, USA.; Department of Neuroscience, University of Kentucky, Lexington, KY, USA., Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Whiting School of Engineering, Johns Hopkins University, Baltimore, MD, USA., Li H; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., Chin CS; DNAnexus, Inc., Mountain View, CA, USA. jchin@dnanexus.com., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA. jzook@nist.gov., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Fritz.Sedlazeck@bcm.edu.

المصدر: Nature biotechnology [Nat Biotechnol] 2022 May; Vol. 40 (5), pp. 672-680. Date of Electronic Publication: 2022 Feb 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human*/genetics, Haplotypes/genetics ; Humans ; Sequence Analysis, DNA

المؤلفون: Wilfert AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Murali SC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Hsieh P; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Center for Medical Genetic & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Bakken TE; Allen Institute for Brain Science, Seattle, WA, USA., Winterkorn LH; New York Genome Center, New York, NY, USA., Evani US; New York Genome Center, New York, NY, USA., Byrska-Bishop M; New York Genome Center, New York, NY, USA., Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Zody MC; New York Genome Center, New York, NY, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

مؤلفون مشاركون: SPARK Consortium

المصدر: Nature genetics [Nat Genet] 2021 Aug; Vol. 53 (8), pp. 1125-1134. Date of Electronic Publication: 2021 Jul 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Autism Spectrum Disorder/*genetics , Proteins/*genetics, Autistic Disorder/genetics ; Evolution, Molecular ; Gene Dosage ; Haplotypes ; Humans ; Linkage Disequilibrium ; Models, Genetic ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Protein Interaction Maps/genetics ; Siblings ; Whole Genome Sequencing

المؤلفون: Ebert P; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Audano PA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Zhu Q; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA., Rodriguez-Martin B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Bonder MJ; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Ebler J; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Zhou W; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA., Serra Mari R; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Yilmaz F; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA., Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hsieh P; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Lee J; Bionano Genomics, San Diego, CA 92121, USA., Kumar S; Program in Computational Biology and Bioinformatics, Yale University, BASS 432 and 437, 266 Whitney Avenue, New Haven, CT 06520, USA., Lin J; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China., Rausch T; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Chen Y; Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Ren J; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Santamarina M; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Department of Zoology, Genetics, and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Höps W; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Ashraf H; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Chuang NT; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Yang X; School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Tallon LJ; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Clarke WE; New York Genome Center, New York, NY 10013, USA., Basile AO; New York Genome Center, New York, NY 10013, USA., Byrska-Bishop M; New York Genome Center, New York, NY 10013, USA., Corvelo A; New York Genome Center, New York, NY 10013, USA., Evani US; New York Genome Center, New York, NY 10013, USA., Lu TY; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA., Chen J; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Li C; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Wenger AM; Pacific Biosciences of California, Menlo Park, CA 94025, USA., Ghareghani M; Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, 66123 Saarbrücken, Germany.; Saarbrücken Graduate School of Computer Science, Saarland University, Saarland Informatics Campus E1.3, 66123 Saarbrücken, Germany.; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA., Raeder B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Regier AA; Department of Medicine, Washington University, St. Louis, MO 63108, USA., Abel HJ; Department of Medicine, Washington University, St. Louis, MO 63108, USA., Hall IM; Department of Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Stegle O; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Gerstein MB; Program in Computational Biology and Bioinformatics, Yale University, BASS 432 and 437, 266 Whitney Avenue, New Haven, CT 06520, USA., Tubio JMC; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Department of Zoology, Genetics, and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Mu Z; Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA., Li YI; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA., Shi X; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA., Hastie AR; Bionano Genomics, San Diego, CA 92121, USA., Ye K; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.; Department of Human Genetics, University of Michigan, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA., Chong Z; Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Sanders AD; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany., Zody MC; New York Genome Center, New York, NY 10013, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA.; Department of Human Genetics, University of Michigan, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA., Devine SE; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA., Lee C; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Road, Xi'an, 710061, Shaanxi, China.; Department of Graduate Studies-Life Sciences, Ewha Womans University, Ewhayeodae-gil, Seodaemun-gu, Seoul 120-750, South Korea., Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK., Marschall T; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA. eee@gs.washington.edu tobias.marschall@hhu.de jan.korbel@embl.org charles.lee@jax.org.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

المصدر: Science (New York, N.Y.) [Science] 2021 Apr 02; Vol. 372 (6537). Date of Electronic Publication: 2021 Feb 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Genome, Human* , Haplotypes*, Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation ; Interspersed Repetitive Sequences ; Male ; Population Groups/genetics ; Quantitative Trait Loci ; Retroelements ; Sequence Analysis, DNA ; Sequence Inversion ; Whole Genome Sequencing

المؤلفون: Nicolas A; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Faghri F; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA., Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Dominov JA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Kenna BJ; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD, USA., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Rivera AM; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Murphy NA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., van Vugt JJFA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Geiger JT; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Van der Spek RA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Shankaracharya; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Marangi G; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Institute of Genomic Medicine, Catholic University, Roma, Italy., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK., Gkazi AS; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Eicher JD; Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., Boston, MA 02115, USA., Kenna A; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Mora G; ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mazzini L; 'Maggiore della Carità' University Hospital, Novara, Italy., Riva N; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Mandrioli J; Department of Neuroscience, St. Agostino Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Caponnetto C; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, Ospedale Policlinico San Martino, Genoa, Italy., Battistini S; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Volanti P; ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy., La Bella V; ALS Clinical Research Center, University of Palermo, Palermo, Italy., Conforti FL; Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy., Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center for Neuromuscular Diseases, Aurora Foundation, Messina, Italy., Simone IL; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy., Trojsi F; Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Salvi F; 'Il Bene' Center for Immunological and Rare Neurological Diseases at Bellaria Hospital, IRCCS, Istituto delle Scienze Neurologiche, Bologna, Italy., Logullo FO; Neurological Clinic, Marche Polytechnic University, Ancona, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Capasso M; Department of Neurology, University of Chieti, Chieti, Italy., Ferrucci L; Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Moreno CAM; Department of Neurology, Columbia University, New York, NY 10032, USA., Kamalakaran S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Harris T; Bioverativ, 225 2nd Avenue, Waltham, MA 02145, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Phatnani H; Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center, New York, NY, USA., Musunuri RL; Computational Biology, New York Genome Center, New York, NY, USA., Evani US; Computational Biology, New York Genome Center, New York, NY, USA., Abhyankar A; Computational Biology, New York Genome Center, New York, NY, USA., Zody MC; Computational Biology, New York Genome Center, New York, NY, USA., Kaye J; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., Finkbeiner S; Gladstone Institute of Neurological Disease, San Francisco, CA, USA; Departments of Neurology and Physiology, University of California San Francisco, San Francisco, CA, USA., Wyman SK; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., LeNail A; Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA., Lima L; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., Fraenkel E; Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA; Broad Institute, 415 Main Street, Cambridge, MA 02142, USA., Svendsen CN; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Thompson LM; Department of Neurobiology and Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA; Department of Psychiatry and Human Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA., Van Eyk JE; The Heart Institute and Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Berry JD; Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA., Miller TM; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Cudkowicz M; Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA., Baxi E; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Benatar M; Department of Neurology, University of Miami, Miami, FL 33136, USA., Taylor JP; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Rampersaud E; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Wu G; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Wuu J; Department of Neurology, University of Miami, Miami, FL 33136, USA., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' and Department of Biomedical and Clinical Sciences 'Luigi Sacco,' University of Milan, Milan, Italy., Verde F; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Fogh I; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Tiloca C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Comi GP; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Corcia P; ALS Center, CHU Bretonneau, Tours University, Tours, France., Laaksovirta H; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Myllykangas L; Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Jansson L; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Valori M; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Ealing J; Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK., Hamdalla H; Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK., Rollinson S; Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK., Pickering-Brown S; Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK., Orrell RW; Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK., Sidle KC; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK., Malaspina A; Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, NorthEast London and Essex Regional Motor Neuron Disease Care Centre, London E1 2AT, UK., Hardy J; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK., Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Johnson JO; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Arepalli S; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Polak M; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Asress S; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Al-Sarraj S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., King A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Vance C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., de Belleroche J; Division of Brain Sciences, Department of Medicine, Imperial College London, London W120NN, UK., Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ten Asbroek ALMA; Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands., Muñoz-Blanco JL; ALS-Neuromuscular Unit, Hospital General Universitario Gregorio Marañón, IISGM, Madrid, Spain., Hernandez DG; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Scholz SW; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Floeter MK; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Campbell RH; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA., Landi F; Center for Geriatric Medicine, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome 00168, Italy., Bowser R; Division of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA., Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Ravits JM; Department of Neuroscience, University of California, San Diego, La Jolla, CA, USA., MacGowan DJL; Mount Sinai Beth Israel Hospital, Mount Sinai School of Medicine, New York, NY, USA., Kirby J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Pioro EP; Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA., Pamphlett R; Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett Street, Camperdown, NSW 2050, Australia., Broach J; Department of Biochemistry, Penn State College of Medicine, Hershey, PA, USA., Gerhard G; Department of Pathology, Penn State College of Medicine, Hershey, PA, USA., Dunckley TL; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA., Brady CB; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA, USA; Department of Neurology, Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA, USA., Kowall NW; Neurology Service, VA Boston Healthcare System and Boston University Alzheimer's Disease Center, Boston, MA 02130, USA., Troncoso JC; Departments of Pathology and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Le Ber I; Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) - Hôpital Pitié-Salpêtrière, Paris, France., Mouzat K; INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France., Lumbroso S; INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France., Heiman-Patterson TD; Department of Neurology, Drexel University College of Medicine, Philadelphia, PA, USA; Department of Neurology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA., Kamel F; Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC 27709, USA., Van Den Bosch L; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium., Baloh RH; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Van Eijk KR; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., de Carvalho M; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal., Kooyman M; SURFsara, Amsterdam, the Netherlands., Middelkoop B; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Moisse M; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium., McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland., Van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Weber M; Neuromuscular Diseases Center/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland., Boylan KB; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK., Basak AN; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey., Mora JS; ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain., Drory VE; Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland., Williams KL; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Fifita JA; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Nicholson GA; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia; ANZAC Research Institute, Concord Hospital, University of Sydney, Sydney, NSW 2139, Australia., Blair IP; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Rogaeva E; Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada., Zinman L; Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada., Ostrow LW; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Maragakis NJ; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Rothstein JD; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Simmons Z; Department of Neurology, Penn State Hershey Medical Center, Hershey, PA, USA., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Brice A; Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) - Hôpital Pitié-Salpêtrière, Paris, France., Goutman SA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Feldman EL; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Gibson SB; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan 20133, Italy., Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan 20133, Italy., Van Damme P; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium., Robberecht W; 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Vito 1, 00168 Rome, Italy., Lunetta C; NEuroMuscular Omnicenter (NEMO), Serena Onlus Foundation, Milan, Italy., Ludolph AC; Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany., Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå SE-90185, Sweden., Weishaupt JH; Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany., Camu W; ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France., Trojanowski JQ; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Van Deerlin VM; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Harms MB; Department of Neurology, Columbia University, New York, NY 10032, USA., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Stone DJ; Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., West Point, PA 19486, USA., Tienari P; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neuroscience Institute of Torino, Turin 10124, Italy., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA. Electronic address: bryan.traynor@nih.gov., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: john.landers@umassmed.edu.

مؤلفون مشاركون: ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium

المصدر: Neuron [Neuron] 2018 Mar 21; Vol. 97 (6), pp. 1267-1288.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*diagnosis , Amyotrophic Lateral Sclerosis/*genetics , Genome-Wide Association Study/*methods , Kinesins/*genetics , Loss of Function Mutation/*genetics, Adult ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Amyotrophic Lateral Sclerosis/epidemiology ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Young Adult

المؤلفون: Challis D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. dannychallis@gmail.com.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dannychallis@gmail.com.; Present address: Monsanto Company, Ankeny, IA, 50021, USA. dannychallis@gmail.com., Antunes L; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. lilian.antunes@gmail.com.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. lilian.antunes@gmail.com.; Present address: Washington University School of Medicine, Saint Louis, MO, 63110, USA. lilian.antunes@gmail.com., Garrison E; Department of Biology, Boston College, Wellcome Trust Sanger Institute, Chestnut Hill, MA, 02467, USA. erik.garrison@bc.edu., Banks E; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA. ebanks@broadinstitute.org., Evani US; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. udayevani@gmail.com.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. udayevani@gmail.com.; Present address: New York Genome Center, New York, NY, 10013, USA. udayevani@gmail.com., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. donnam@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. donnam@bcm.edu., Poplin R; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA. rpoplin@broadinstitute.org., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. agibbs@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. agibbs@bcm.edu., Marth G; Department of Biology, Boston College, Wellcome Trust Sanger Institute, Chestnut Hill, MA, 02467, USA. marth@bc.edu.; Present address: Department of Human Genetics and Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA. marth@bc.edu., Yu F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. fyu@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. fyu@bcm.edu.; Institute of Neurology, Tianjin Medical University General Hospital, Tianjin, 300052, China. fyu@bcm.edu.

المصدر: BMC genomics [BMC Genomics] 2015 Feb 28; Vol. 16, pp. 143. Date of Electronic Publication: 2015 Feb 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Mutagenesis*, Exome/*genetics , INDEL Mutation/*genetics, Computational Biology ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Human Genome Project ; Humans ; Machine Learning