المؤلفون: Alcantara, D, Timms, AE, Gripp, K, Baker, L, Park, K, Collins, S, Cheng, C, Stewart, F, Mehta, SG, Saggar, A, Sztriha, L, Zombor, M, Caluseriu, O, Mesterman, R, Van Allen, MI, Jacquinet, A, Ygberg, S, Bernstein, JA, Wenger, AM, Guturu, H, Bejerano, G, Gomez-Ospina, N, Lehman, A, Alfei, E, Pantaleoni, C, Conti, V, Guerrini, R, Moog, U, Graham, JM, Hevner, R, Dobyns, WB, O'Driscoll, M, Mirzaa, GM

المصدر: Brain : a journal of neurology. 140(10):2610-2622

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136965922

المؤلفون: Laurell, T, VanderMeer, JE, Wenger, AM, Grigelioniene, G, Nordenskjold, A, Arner, M, Ekblom, AG, Bejerano, G, Ahituv, N, Nordgren, A

المصدر: Human mutation. 33(7):1063-1066

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:124719778

المؤلفون: Ahituv, Nadav, Clarke, SL, VanderMeer, JE, Wenger, AM, Schaar, BT, Bejerano, G

URL الوصول: https://escholarship.org/uc/item/3d27d0k0

المؤلفون: Holt JM; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States., Saunders CT; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States., Rowell WJ; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States., Kronenberg Z; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States., Wenger AM; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States., Eberle M; Computational Biology, PacBio, 1305 O'Brien Drive, Menlo Park, CA 94025, United States.

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2024 Feb 01; Vol. 40 (2).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Genome, Human*, Humans ; Sequence Analysis, DNA ; Algorithms ; Haplotypes ; Tandem Repeat Sequences

المؤلفون: Vollger MR; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Korlach J; PacBio, Menlo Park, CA, USA., Eldred KC; University of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA., Swanson E; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA., Underwood JG; PacBio, Menlo Park, CA, USA., Cheng YH; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA., Ranchalis J; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Mao Y; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Blue EE; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Schwarze U; University of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA., Munson KM; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA., Saunders CT; PacBio, Menlo Park, CA, USA., Wenger AM; PacBio, Menlo Park, CA, USA., Allworth A; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Chanprasert S; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Duerden BL; Mary Bridge/MultiCare, Tacoma, WA, USA., Glass I; University of Washington, Department of Pediatrics, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Horike-Pyne M; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Kim M; PacBio, Menlo Park, CA, USA., Leppig KA; Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA., McLaughlin IJ; PacBio, Menlo Park, CA, USA., Ogawa J; Case Western Reserve University, Cleveland, OH., Rosenthal EA; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Sheppeard S; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Sherman SM; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Strohbehn S; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Yuen AL; Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA., Reh TA; University of Washington School of Medicine, Department of Biological Structure, Seattle, WA, USA., Byers PH; University of Washington School of Medicine, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA., Bamshad MJ; University of Washington, Department of Pediatrics, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Hisama FM; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Jarvik GP; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Sancak Y; University of Washington School of Medicine, Department of Pharmacology, Seattle, WA, USA., Dipple KM; University of Washington, Department of Pediatrics, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Stergachis AB; University of Washington School of Medicine, Department of Genome Sciences, Seattle, WA, USA.; University of Washington School of Medicine, Department of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN)

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Sep 27. Date of Electronic Publication: 2023 Sep 27.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Oxford Nanopore Technologies Inc., Oxford, UK., Cechova M; Faculty of Informatics, Masaryk University, Brno, Czech Republic.; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA., Hoyt SJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Altemose N; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA., Hook PW; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Alexandrov IA; Federal Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.; Department of Anatomy and Anthropology and Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel., Allen J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Asri M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA., Chen NC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Chin CS; GeneDX Holdings Corp, Stamford, CT, USA.; Foundation of Biological Data Science, Belmont, CA, USA., Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Genetics, University of Cambridge, Cambridge, UK., Formenti G; The Rockefeller University, New York, NY, USA., Fungtammasan A; DNAnexus, Inc., Mountain View, CA, USA., Garcia Giron C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Gershman A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; University of Kansas Medical Center, Kansas City, MO, USA., Grady PGS; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy., Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Halabian R; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany., Hansen NF; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harris R; Department of Biology, Pennsylvania State University, University Park, PA, USA., Hartley GA; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Haukness M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Heinz J; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hubley RM; Institute for Systems Biology, Seattle, WA, USA., Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hwang S; XDBio Program, Johns Hopkins University, Baltimore, MD, USA., Jain M; Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA., Kesharwani RK; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lucas JK; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Makalowski W; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany., Markovic C; Genome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA., Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Mc Cartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., McDaniel J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., McNulty BM; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Medvedev P; Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA, USA.; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA.; Center for Computational Biology and Bioinformatics, Pennsylvania State University, University Park, PA, USA., Mikheenko A; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.; UCL Queen Square Institute of Neurology, UCL, London, UK., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Murphy TD; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Olsen HE; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Olson ND; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA., Ryabov F; Masters Program in National Research University Higher School of Economics, Moscow, Russia., Salzberg SL; Departments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA., Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA., Shafin K; Google Inc., Mountain View, CA, USA., Shepelev VA; Institute of Molecular Genetics, Moscow, Russia., Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Storer JM; Institute for Systems Biology, Seattle, WA, USA., Surapaneni L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Taravella Oill AM; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA., Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Timp W; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Tomaszkiewicz M; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Department of Biomedical Engineering, Pennsylvania State University, State College, PA, USA., Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Watwood AC; Department of Biology, Pennsylvania State University, University Park, PA, USA., Weissensteiner MH; Department of Biology, Pennsylvania State University, University Park, PA, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Wilson MA; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA., Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Zhu Y; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Investigator, Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., O'Neill RJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA., Schatz MC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Miga KH; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Makova KD; Department of Biology, Pennsylvania State University, University Park, PA, USA., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.

المصدر: Nature [Nature] 2023 Sep; Vol. 621 (7978), pp. 344-354. Date of Electronic Publication: 2023 Aug 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Y*/genetics , Genomics*/methods , Genomics*/standards , Sequence Analysis, DNA*/standards, Humans ; Base Sequence ; DNA, Satellite/genetics ; Genetic Variation/genetics ; Genetics, Population ; Heterochromatin/genetics ; Multigene Family/genetics ; Reference Standards ; Segmental Duplications, Genomic/genetics ; Tandem Repeat Sequences/genetics ; Telomere/genetics

المؤلفون: Cheung WA; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Johnson AF; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Rowell WJ; Pacific Biosciences, Menlo Park, CA, USA., Farrow E; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Hall R; Pacific Biosciences, Menlo Park, CA, USA., Cohen ASA; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Means JC; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Zion TN; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Portik DM; Pacific Biosciences, Menlo Park, CA, USA., Saunders CT; Pacific Biosciences, Menlo Park, CA, USA., Koseva B; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Bi C; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Truong TK; Center for Human Genetics and Genomics, Department of Pediatrics, Department of Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY, USA., Schwendinger-Schreck C; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Yoo B; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Johnston JJ; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Gibson M; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Evrony G; Center for Human Genetics and Genomics, Department of Pediatrics, Department of Neuroscience and Physiology, New York University Grossman School of Medicine, New York, NY, USA., Rizzo WB; Child Health Research Institute, Department of Pediatrics, Nebraska Medical Center, Omaha, NE, USA., Thiffault I; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Younger ST; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Curran T; Children's Mercy Research Institute, Kansas City, MO, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Grundberg E; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA. egrundberg@cmh.edu.; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA. egrundberg@cmh.edu., Pastinen T; Department of Pediatrics, Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA. tpastinen@cmh.edu.; Department of Pediatrics, School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA. tpastinen@cmh.edu.

المصدر: Nature communications [Nat Commun] 2023 May 29; Vol. 14 (1), pp. 3090. Date of Electronic Publication: 2023 May 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*/genetics , DNA Methylation*/genetics, Humans ; Haplotypes ; Sequence Analysis, DNA ; Base Sequence ; High-Throughput Nucleotide Sequencing ; Nerve Tissue Proteins/genetics

المؤلفون: Kucuk E; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van der Sanden BPGH; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., O'Gorman L; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Kwint M; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Lambert C; Pacific Biosciences, Menlo Park, CA, USA., Chakraborty S; Pacific Biosciences, Menlo Park, CA, USA., Baybayan P; Pacific Biosciences, Menlo Park, CA, USA., Rowell WJ; Pacific Biosciences, Menlo Park, CA, USA., Brunner HG; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Department of Internal Medicine, Radboud University Medical Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl., Gilissen C; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.

المصدر: Genome medicine [Genome Med] 2023 May 08; Vol. 15 (1), pp. 34. Date of Electronic Publication: 2023 May 08.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , INDEL Mutation*, Humans ; Alleles ; Microsatellite Repeats

المؤلفون: Baid G; Google LLC, Mountain View, CA, USA., Cook DE; Google LLC, Mountain View, CA, USA., Shafin K; Google LLC, Mountain View, CA, USA., Yun T; Google LLC, Mountain View, CA, USA., Llinares-López F; Google LLC, Mountain View, CA, USA., Berthet Q; Google LLC, Mountain View, CA, USA., Belyaeva A; Google LLC, Mountain View, CA, USA., Töpfer A; Pacific Biosciences, Menlo Park, CA, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Rowell WJ; Pacific Biosciences, Menlo Park, CA, USA., Yang H; Google LLC, Mountain View, CA, USA., Kolesnikov A; Google LLC, Mountain View, CA, USA., Ammar W; Google LLC, Mountain View, CA, USA., Vert JP; Google LLC, Mountain View, CA, USA., Vaswani A; Google LLC, Mountain View, CA, USA., McLean CY; Google LLC, Mountain View, CA, USA., Nattestad M; Google LLC, Mountain View, CA, USA., Chang PC; Google LLC, Mountain View, CA, USA., Carroll A; Google LLC, Mountain View, CA, USA. awcarroll@google.com.

المصدر: Nature biotechnology [Nat Biotechnol] 2023 Feb; Vol. 41 (2), pp. 232-238. Date of Electronic Publication: 2022 Sep 01.

نوع المنشور: Journal Article

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: High-Throughput Nucleotide Sequencing*, Sequence Analysis, DNA

المؤلفون: Sanford Kobayashi E; Rady Institute for Genomic Medicine, San Diego, CA, USA. esanford@rchsd.org.; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. esanford@rchsd.org., Batalov S; Rady Institute for Genomic Medicine, San Diego, CA, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Lambert C; Pacific Biosciences, Menlo Park, CA, USA., Dhillon H; Pacific Biosciences, Menlo Park, CA, USA., Hall RJ; Pacific Biosciences, Menlo Park, CA, USA., Baybayan P; Pacific Biosciences, Menlo Park, CA, USA., Ding Y; Rady Institute for Genomic Medicine, San Diego, CA, USA., Rego S; Rady Institute for Genomic Medicine, San Diego, CA, USA., Wigby K; Rady Institute for Genomic Medicine, San Diego, CA, USA.; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Friedman J; Rady Institute for Genomic Medicine, San Diego, CA, USA.; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.; Department of Neuroscience, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Hobbs C; Rady Institute for Genomic Medicine, San Diego, CA, USA., Bainbridge MN; Rady Institute for Genomic Medicine, San Diego, CA, USA.

المصدر: Scientific reports [Sci Rep] 2022 Oct 09; Vol. 12 (1), pp. 16945. Date of Electronic Publication: 2022 Oct 09.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , High-Throughput Nucleotide Sequencing*/methods, Base Sequence ; Genomics ; Humans ; I-kappa B Kinase ; Sequence Analysis, DNA/methods