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    Wyświetlanie 1-9 z 9
    Tytuł:
    Whole Exome Sequencing in Atrial Fibrillation.
    Autorzy:
    Lubitz SA; Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston, Massachusetts, United States of America.; Program in Medical and Population Genetics, The Broad Insitute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
    Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
    Bihlmeyer NA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
    Roselli C; Program in Medical and Population Genetics, The Broad Insitute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
    Weng LC; Program in Medical and Population Genetics, The Broad Insitute of Harvard and MIT, Cambridge, Massachusetts, United States of America.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
    Christophersen IE; Program in Medical and Population Genetics, The Broad Insitute of Harvard and MIT, Cambridge, Massachusetts, United States of America.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America.; Department of Medical Research, Bærum Hospital, Vestre Viken Hospital Trust, Bærum, Norway.
    Alonso A; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, United States of America.
    Boerwinkle E; Human Genetics Center, UTHealth, Houston, Texas, United States of America.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
    Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
    Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.
    Cupples LA; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America.; Boston University and National Heart, Lung and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, United States of America.
    Mohler PJ; Dorothy M. Davis Heart & Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.
    Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
    Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
    Perez MV; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, United States of America.
    Psaty BM; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington, United States of America.; Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America.
    Soliman EZ; Epidemiological Cardiology Research Center (EPICARE), Wake Forest School of Medicine, Winston-Salem, North Carolina, United States of America.
    Sotoodehnia N; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.; Division of Cardiology, University of Washington, Seattle, Washington, United States of America.
    Lunetta KL; Boston University and National Heart, Lung and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, United States of America.
    Benjamin EJ; Boston University and National Heart, Lung and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, United States of America.; Section of Cardiovascular Medicine, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, United States of America.; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, United States of America.; Preventive Medicine Section, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, United States of America.
    Heckbert SR; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America.; Department of Epidemiology, University of Washington, Seattle, Washington, United States of America.
    Arking DE; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
    Ellinor PT; Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston, Massachusetts, United States of America.; Program in Medical and Population Genetics, The Broad Insitute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
    Lin H; Boston University and National Heart, Lung and Blood Institute's Framingham Heart Study, Framingham, Massachusetts, United States of America.; Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, United States of America.
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    Corporate Authors:
    NHLBI GO Exome Sequencing Project
    Źródło:
    PLoS genetics [PLoS Genet] 2016 Sep 02; Vol. 12 (9), pp. e1006284. Date of Electronic Publication: 2016 Sep 02 (Print Publication: 2016).
    Typ publikacji:
    Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
    MeSH Terms:
    Genetic Predisposition to Disease*
    Atrial Fibrillation/*genetics
    Exome/*genetics
    Microfilament Proteins/*genetics
    Aged ; Atrial Fibrillation/pathology ; Female ; Gene Frequency ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
    Autorzy:
    Do R; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Stitziel NO; 1] Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA. [2] Division of Statistical Genomics, Washington University School of Medicine, St Louis, Missouri 63110, USA.
    Won HH; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Jørgensen AB; Department of Clinical Biochemistry KB3011, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospitals and Faculty of Health Sciences, University of Copenhagen, Copenhagen 1165, Denmark.
    Duga S; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano 20122, Italy.
    Angelica Merlini P; Division of Cardiology, Ospedale Niguarda, Milano 20162, Italy.
    Kiezun A; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Farrall M; Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK.
    Goel A; Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK.
    Zuk O; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Guella I; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano 20122, Italy.
    Asselta R; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano 20122, Italy.
    Lange LA; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
    Peloso GM; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Auer PL; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
    Girelli D; University of Verona School of Medicine, Department of Medicine, Verona 37129, Italy.
    Martinelli N; University of Verona School of Medicine, Department of Medicine, Verona 37129, Italy.
    Farlow DN; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    DePristo MA; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Roberts R; John &Jennifer Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
    Stewart AF; John &Jennifer Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
    Saleheen D; Department of Public Health and Primary Care, University of Cambridge, Cambridge CB2 1TN, UK.
    Danesh J; Department of Public Health and Primary Care, University of Cambridge, Cambridge CB2 1TN, UK.
    Epstein SE; MedStar Health Research Institute, Cardiovascular Research Institute, Hyattsville, Maryland 20782, USA.
    Sivapalaratnam S; Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
    Hovingh GK; Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
    Kastelein JJ; Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
    Samani NJ; Department of Cardiovascular Sciences, University of Leicester, and Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester LE3 9QP, UK.
    Schunkert H; DZHK (German Research Centre for Cardiovascular Research), Munich Heart Alliance, Deutsches Herzzentrum München, Technische Universität München, Berlin 13347, Germany.
    Erdmann J; Medizinische Klinik II, University of Lübeck, Lübeck 23562, Germany.
    Shah SH; 1] Center for Human Genetics, Duke University, Durham, North Carolina 27708, USA. [2] Department of Cardiology and Center for Genomic Medicine, Duke University School of Medicine, Durham, North Carolina 27708, USA.
    Kraus WE; Department of Cardiology and Center for Genomic Medicine, Duke University School of Medicine, Durham, North Carolina 27708, USA.
    Davies R; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
    Nikpay M; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
    Johansen CT; Department of Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
    Wang J; Department of Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
    Hegele RA; 1] Department of Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada. [2] Department of Medicine, Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
    Hechter E; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Marz W; 1] Medical Faculty Mannheim, Mannheim Institute of Public Health, Social and Preventive Medicine, Heidelberg University, Ludolf Krehl Strasse 7-11, Mannheim D-68167, Germany. [2] Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz 8036, Austria. [3] Synlab Academy, Mannheim 68259, Germany.
    Kleber ME; Medical Faculty Mannheim, Mannheim Institute of Public Health, Social and Preventive Medicine, Heidelberg University, Ludolf Krehl Strasse 7-11, Mannheim D-68167, Germany.
    Huang J; The National Heart, Lung, Blood Institute's Framingham Heart Study, Framingham, Massachusetts 01702, USA.
    Johnson AD; National Heart, Lung, and Blood Institute Center for Population Studies, The Framingham Heart Study, Framingham, Massachusetts 01702, USA.
    Li M; Department of Biostatistics and Epidemiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Burke GL; Department of Epidemiology, University of Alabama-Birmingham, Birmingham, Alabama 35233, USA.
    Gross M; Department of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA.
    Liu Y; School of Medicine, Wake Forest University, Winston-Salem, North Carolina 27106, USA.
    Assimes TL; Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA.
    Heiss G; Department of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
    Lange EM; 1] Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA. [2] Carolina Center for Genome Sciences, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
    Folsom AR; Division of Epidemiology and Community Health, University of Minnesota School of Public Health, Minneapolis, Minnesota 55455, USA.
    Taylor HA; University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
    Olivieri O; University of Verona School of Medicine, Department of Medicine, Verona 37129, Italy.
    Hamsten A; Atherosclerosis Research Unit, Department of Medicine, and Center for Molecular Medicine, Karolinska Institutet, Stockholm 171 77, Sweden.
    Clarke R; Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford OX1 2JD, UK.
    Reilly DF; Merck Sharp &Dohme Corporation, Rahway, New Jersey 08889, USA.
    Yin W; Merck Sharp &Dohme Corporation, Rahway, New Jersey 08889, USA.
    Rivas MA; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.
    Donnelly P; 1] The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK. [2] Department of Statistics, University of Oxford, Oxford OX1 2JD, UK.
    Rossouw JE; National Heart, Lung, and Blood Institute, Bethesda, Maryland 20824, USA.
    Psaty BM; 1] Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington 98195, USA. [2] Group Health Research Institute, Group Health Cooperative, Seattle, Washington 98101, USA.
    Herrington DM; Section on Cardiology, and Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina 27106, USA.
    Wilson JG; Jackson Heart Study, University of Mississippi Medical Center, Jackson State University, Jackson, Mississippi 39217, USA.
    Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22904, USA.
    Bamshad MJ; 1] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA. [2] Seattle Children's Hospital, Seattle, Washington 98105, USA. [3] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
    Tracy RP; Department of Biochemistry, University of Vermont, Burlington, Vermont 05405, USA.
    Cupples LA; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA.
    Rader DJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Reilly MP; Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Spertus JA; St Luke's Mid America Heart Institute, University of Missouri-Kansas City, Kansas City, Missouri 64111, USA.
    Cresci S; 1] Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA. [2] Department of Genetics, Washington University in St Louis, Missouri 63130, USA.
    Hartiala J; Department of Preventive Medicine and Institute for Genetic Medicine, University of Southern California Keck School of Medicine, Los Angeles, California 90033, USA.
    Tang WH; Cardiovascular Medicine, Cleveland Clinic, Cleveland, Ohio 44195, USA.
    Hazen SL; Cardiovascular Medicine, Cleveland Clinic, Cleveland, Ohio 44195, USA.
    Allayee H; Department of Preventive Medicine and Institute for Genetic Medicine, University of Southern California Keck School of Medicine, Los Angeles, California 90033, USA.
    Reiner AP; 1] Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA. [2] Department of Epidemiology, University of Washington, Seattle, Washington 98195, USA.
    Carlson CS; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
    Kooperberg C; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
    Jackson RD; Ohio State University, Columbus, Ohio 43210, USA.
    Boerwinkle E; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
    Lander ES; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Schwartz SM; 1] Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA. [2] Department of Epidemiology, University of Washington, Seattle, Washington 98195, USA.
    Siscovick DS; 1] Department of Epidemiology, University of Washington, Seattle, Washington 98195, USA. [2] Department of Medicine, School of Medicine, University of Washington, Seattle, Washington 98195, USA.
    McPherson R; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
    Tybjaerg-Hansen A; 1] Department of Clinical Biochemistry KB3011, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospitals and Faculty of Health Sciences, University of Copenhagen, Copenhagen 1165, Denmark. [2] Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200 København N, Denmark.
    Abecasis GR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Missouri 48109, USA.
    Watkins H; 1] Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK. [2] The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.
    Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
    Ardissino D; Department of Cardiology, Parma Hospital, Parma 43100, Italy.
    Sunyaev SR; 1] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA. [2] Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
    O'Donnell CJ; The National Heart, Lung, Blood Institute's Framingham Heart Study, Framingham, Massachusetts 01702, USA.
    Altshuler D; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Gabriel S; Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Kathiresan S; 1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
    Pokaż więcej
    Corporate Authors:
    NHLBI Exome Sequencing Project
    Źródło:
    Nature [Nature] 2015 Feb 05; Vol. 518 (7537), pp. 102-6. Date of Electronic Publication: 2014 Dec 10.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Alleles*
    Apolipoproteins A/*genetics
    Exome/*genetics
    Genetic Predisposition to Disease/*genetics
    Myocardial Infarction/*genetics
    Receptors, LDL/*genetics
    Age Factors ; Age of Onset ; Apolipoprotein A-V ; Case-Control Studies ; Cholesterol, LDL/blood ; Coronary Artery Disease/genetics ; Female ; Genetics, Population ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Myocardial Infarction/blood ; National Heart, Lung, and Blood Institute (U.S.) ; Triglycerides/blood ; United States
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
    Autorzy:
    Fu W; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. />O'Connor TD
    Jun G
    Kang HM
    Abecasis G
    Leal SM
    Gabriel S
    Rieder MJ
    Altshuler D
    Shendure J
    Nickerson DA
    Bamshad MJ
    Akey JM
    Pokaż więcej
    Corporate Authors:
    NHLBI Exome Sequencing Project
    Źródło:
    Nature [Nature] 2013 Jan 10; Vol. 493 (7431), pp. 216-20. Date of Electronic Publication: 2012 Nov 28.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Evolution, Molecular*
    Exome/*genetics
    Genetic Variation/*genetics
    Open Reading Frames/*genetics
    Africa/ethnology ; Alleles ; Black People/genetics ; Europe/ethnology ; Exons/genetics ; Humans ; Polymorphism, Single Nucleotide/genetics ; United States ; White People/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
    Autorzy:
    Tennessen JA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
    Bigham AW
    O'Connor TD
    Fu W
    Kenny EE
    Gravel S
    McGee S
    Do R
    Liu X
    Jun G
    Kang HM
    Jordan D
    Leal SM
    Gabriel S
    Rieder MJ
    Abecasis G
    Altshuler D
    Nickerson DA
    Boerwinkle E
    Sunyaev S
    Bustamante CD
    Bamshad MJ
    Akey JM
    Pokaż więcej
    Corporate Authors:
    Broad GO
    Seattle GO
    NHLBI Exome Sequencing Project
    Źródło:
    Science (New York, N.Y.) [Science] 2012 Jul 06; Vol. 337 (6090), pp. 64-9. Date of Electronic Publication: 2012 May 17.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Evolution, Molecular*
    Exome*
    Genetic Variation*
    Genome, Human*
    High-Throughput Nucleotide Sequencing*
    Polymorphism, Single Nucleotide*
    Black or African American/*genetics
    White People/*genetics
    Disease/genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Population Growth ; Selection, Genetic
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
    Autorzy:
    O'Roak BJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
    Vives L
    Girirajan S
    Karakoc E
    Krumm N
    Coe BP
    Levy R
    Ko A
    Lee C
    Smith JD
    Turner EH
    Stanaway IB
    Vernot B
    Malig M
    Baker C
    Reilly B
    Akey JM
    Borenstein E
    Rieder MJ
    Nickerson DA
    Bernier R
    Shendure J
    Eichler EE
    Pokaż więcej
    Źródło:
    Nature [Nature] 2012 Apr 04; Vol. 485 (7397), pp. 246-50. Date of Electronic Publication: 2012 Apr 04.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Autistic Disorder/*genetics
    Exome/*genetics
    Exons/*genetics
    Point Mutation/*genetics
    Protein Interaction Maps/*genetics
    DNA-Binding Proteins/genetics ; GPI-Linked Proteins/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Laminin/genetics ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/genetics ; Netrins ; Parents ; Receptors, N-Methyl-D-Aspartate/genetics ; Reproducibility of Results ; Siblings ; Signal Transduction ; Sodium Channels/genetics ; Stochastic Processes ; Transcription Factors/genetics ; Tumor Suppressor Protein p53/metabolism ; beta Catenin/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Exome sequencing as a tool for Mendelian disease gene discovery.
    Autorzy:
    Bamshad MJ; Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195-6320, USA. />Ng SB
    Bigham AW
    Tabor HK
    Emond MJ
    Nickerson DA
    Shendure J
    Pokaż więcej
    Źródło:
    Nature reviews. Genetics [Nat Rev Genet] 2011 Sep 27; Vol. 12 (11), pp. 745-55. Date of Electronic Publication: 2011 Sep 27.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Review
    MeSH Terms:
    Genome, Human*
    Exome/*genetics
    Sequence Analysis, DNA/*methods
    Alleles ; Base Sequence ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Molecular Sequence Data ; Pedigree ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-9 z 9

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