المؤلفون: Al'Khafaji AM; Broad Institute of MIT and Harvard, Cambridge, MA, USA. aalkhafa@broadinstitute.org., Smith JT; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Broad Institute of MIT and Harvard, Cambridge, MA, USA. kiran@broadinstitute.org., Babadi M; Broad Institute of MIT and Harvard, Cambridge, MA, USA. mehrtash@broadinstitute.org., Popic V; Broad Institute of MIT and Harvard, Cambridge, MA, USA. vpopic@broadinstitute.org., Sade-Feldman M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA., Gatzen M; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sarkizova S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Schwartz MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA, USA., Blaum EM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA., Day A; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Costello M; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bowers T; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Banks E; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Boland GM; Division of Surgical Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Blainey PC; Broad Institute of MIT and Harvard, Cambridge, MA, USA. pblainey@broadinstitute.org.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA. pblainey@broadinstitute.org.; Koch Institute for Integrative Cancer Research at the Massachusetts Institute of Technology, Cambridge, MA, USA. pblainey@broadinstitute.org., Hacohen N; Broad Institute of MIT and Harvard, Cambridge, MA, USA. nhacohen@broadinstitute.org.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA. nhacohen@broadinstitute.org.; Harvard Medical School, Boston, MA, USA. nhacohen@broadinstitute.org.; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Charlestown, MA, USA. nhacohen@broadinstitute.org.

المصدر: Nature biotechnology [Nat Biotechnol] 2024 Apr; Vol. 42 (4), pp. 582-586. Date of Electronic Publication: 2023 Jun 08.

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: RNA Isoforms*/genetics , High-Throughput Nucleotide Sequencing*/methods, DNA, Complementary/genetics ; Protein Isoforms/genetics ; Sequence Analysis, RNA/methods ; Transcriptome ; Gene Expression Profiling/methods ; RNA/genetics

المؤلفون: Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Riquin K; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Chatron N; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Lamar KM; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Aziz MC; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Monin P; Service de génétique, Hospices Civils de Lyon, Lyon, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Yoon E; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Weisburd B; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Aguet F; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sarusi Y; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Sanlaville D; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Kayani S; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Broadbent B; Coalition to Cure CHD2, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Pengam A; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Ulitsky I; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Carvill GL; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 07. Date of Electronic Publication: 2024 Feb 07.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Penter L; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Hematology, Oncology, and Tumorimmunology, Campus Virchow Klinikum, Berlin, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Digital Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany., Borji M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Translational Immunogenomics Lab, Dana-Farber Cancer Institute, Boston, MA, USA., Nagler A; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA., Lyu H; Translational Immunogenomics Lab, Dana-Farber Cancer Institute, Boston, MA, USA., Lu WS; Translational Immunogenomics Lab, Dana-Farber Cancer Institute, Boston, MA, USA., Cieri N; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Maurer K; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Oliveira G; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Al'Khafaji AM; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA., Garimella KV; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA., Li S; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Translational Immunogenomics Lab, Dana-Farber Cancer Institute, Boston, MA, USA., Neuberg DS; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., Ritz J; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Soiffer RJ; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Garcia JS; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Livak KJ; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Translational Immunogenomics Lab, Dana-Farber Cancer Institute, Boston, MA, USA., Wu CJ; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. catherine_wu@dfci.harvard.edu.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA. catherine_wu@dfci.harvard.edu.; Harvard Medical School, Boston, MA, USA. catherine_wu@dfci.harvard.edu.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA. catherine_wu@dfci.harvard.edu.

المصدر: Nature communications [Nat Commun] 2024 Jan 02; Vol. 15 (1), pp. 32. Date of Electronic Publication: 2024 Jan 02.

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

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: High-Throughput Nucleotide Sequencing*/methods , Leukemia, Myeloid, Acute*/genetics , Leukemia, Myeloid, Acute*/pathology, Humans ; Genotype ; Phenotype ; Gene Expression Profiling/methods

المؤلفون: Armstrong EE; School of Biological Sciences, Washington State University, Pullman, WA, USA., Perry BW; School of Biological Sciences, Washington State University, Pullman, WA, USA., Huang Y; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jansen HT; Integrative Physiology and Neuroscience, Washington State University, Pullman, WA, USA., Robbins CT; School of Biological Sciences, Washington State University, Pullman, WA, USA.; School of the Environment, Washington State University, Pullman, WA, USA., Tucker NR; Masonic Medical Research Institute, New York, NY, USA.; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kelley JL; School of Biological Sciences, Washington State University, Pullman, WA, USA.

المصدر: Genome biology and evolution [Genome Biol Evol] 2022 Sep 06; Vol. 14 (9).

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101509707 Publication Model: Print Cited Medium: Internet ISSN: 1759-6653 (Electronic) Linking ISSN: 17596653 NLM ISO Abbreviation: Genome Biol Evol Subsets: MEDLINE

مواضيع طبية MeSH: Ursidae*/genetics, Animals ; Chromosomes ; Genome ; Haplotypes ; Humans ; Phylogeny

المؤلفون: Garimella KV; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, OX3 7BN, United Kingdom.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, Oxfordshire, OX3 7LF, United Kingdom., Iqbal Z; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, OX3 7BN, United Kingdom.; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Krause MA; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, OX3 7BN, United Kingdom.; The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom.; Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA., Campino S; The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom., Kekre M; The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom., Drury E; The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom., Kwiatkowski D; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, Oxfordshire, OX3 7LF, United Kingdom.; The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom., Sá JM; Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA., Wellems TE; Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA., McVean G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, OX3 7BN, United Kingdom.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, Oxfordshire, OX3 7LF, United Kingdom.

المصدر: Genome research [Genome Res] 2020 Aug; Vol. 30 (8), pp. 1154-1169. Date of Electronic Publication: 2020 Aug 19.

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Protozoan/*genetics , High-Throughput Nucleotide Sequencing/*methods , Mutation/*genetics , Plasmodium falciparum/*genetics , Whole Genome Sequencing/*methods, Algorithms ; Base Sequence ; Genetic Variation/genetics ; Sequence Alignment ; Sequence Analysis, DNA/methods ; Software

المؤلفون: Turner I; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Garimella KV; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK., Iqbal Z; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK., McVean G; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2018 Aug 01; Vol. 34 (15), pp. 2556-2565.

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

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: Data Visualization* , Software*, Genomics/*methods , High-Throughput Nucleotide Sequencing/*methods , Sequence Analysis, DNA/*methods, Algorithms ; Humans ; Klebsiella pneumoniae/genetics

المؤلفون: Francioli LC; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Cretu-Stancu M; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Garimella KV; Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK., Fromer M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kloosterman WP; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands., Samocha KE; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Neale BM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Banks E; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., DePristo MA; Program in Medical and Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., de Bakker PI; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, CG, The Netherlands.

مؤلفون مشاركون: Genome of the Netherlands consortium

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Feb; Vol. 25 (2), pp. 227-233. Date of Electronic Publication: 2016 Nov 23.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation* , Pedigree* , Polymorphism, Single Nucleotide* , Software*, Genome-Wide Association Study/*methods , Sequence Analysis, DNA/*methods, Adult ; Child ; Chromosomes, Human, X/genetics ; Exome ; Female ; Genotype ; Humans ; Male ; Models, Genetic

المؤلفون: Van der Auwera GA; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Carneiro MO; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Hartl C; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Poplin R; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Del Angel G; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Levy-Moonshine A; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Jordan T; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Shakir K; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Roazen D; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Thibault J; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Banks E; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Garimella KV; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Altshuler D; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., Gabriel S; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts., DePristo MA; Genome Sequencing and Analysis Group, Broad Institute, Cambridge, Massachusetts.

المصدر: Current protocols in bioinformatics [Curr Protoc Bioinformatics] 2013; Vol. 43, pp. 11.10.1-11.10.33.

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

بيانات الدورية: Country of Publication: United States NLM ID: 101157830 Publication Model: Print Cited Medium: Internet ISSN: 1934-340X (Electronic) Linking ISSN: 19343396 NLM ISO Abbreviation: Curr Protoc Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Genome, Human* , Software*, Calibration ; Databases, Genetic ; Haploidy ; Haplotypes/genetics ; Humans ; Molecular Sequence Annotation ; Polymorphism, Single Nucleotide/genetics ; Sequence Alignment

المؤلفون: Dixon-Salazar TJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Silhavy JL; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Udpa N; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA., Schroth J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Bielas S; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Schaffer AE; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Olvera J; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Bafna V; Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Abdel-Salam GH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Mansour LA; Cairo University Children's Hospital, Cairo 406, Egypt., Selim L; Cairo University Children's Hospital, Cairo 406, Egypt., Abdel-Hadi S; Cairo University Children's Hospital, Cairo 406, Egypt., Marzouki N; Laboratoire Génétique Moléculaire, El Razi University Hospital, Marrakech 2360, Morocco., Ben-Omran T; Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar., Al-Saana NA; Department of Pediatrics, Dhahran Health Center, Saudi Aramco Corporation, Dhahran 31311, KSA., Sonmez FM; Child Neurology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey., Celep F; Medical Biology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey., Azam M; Department of Paediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan., Hill KJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Collazo A; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Fenstermaker AG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Novarino G; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Akizu N; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA., Garimella KV; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Sougnez C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Russ C; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Gabriel SB; The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Gleeson JG; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.

المصدر: Science translational medicine [Sci Transl Med] 2012 Jun 13; Vol. 4 (138), pp. 138ra78.

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

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Exome/*genetics, Female ; Humans ; Male ; Mutation ; Pedigree ; Sequence Analysis, DNA ; Vesicular Transport Proteins/genetics

المؤلفون: Conrad DF; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P

مؤلفون مشاركون: 1000 Genomes Project

المصدر: Nature genetics [Nat Genet] 2011 Jun 12; Vol. 43 (7), pp. 712-4. Date of Electronic Publication: 2011 Jun 12.

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

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

مواضيع طبية MeSH: Family* , Genetic Variation* , Genome, Human*, Germ-Line Mutation/*genetics, Chromosome Mapping ; DNA Mutational Analysis ; Female ; Humans ; Male ; Polymerase Chain Reaction