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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola, Laura M; Dorschner, Michael O; Robertson, Peggy D; Salama, Joseph S; Hart, Ragan; Shirts, Brian H; Murray, Mitzi L; Tokita, Mari J; Gallego, Carlos J; Kim, Daniel Seung; Bennett, James T; Crosslin, David R; Ranchalis, Jane; Jones, Kelly L; Rosenthal, Elisabeth A; Jarvik, Ella R; Itsara, Andy; Turner, Emily H; Herman, Daniel S; Schleit, Jennifer; Burt, Amber; Jamal, Seema M; Abrudan, Jenica L; Johnson, Andrew D; Conlin, Laura K; Dulik, Matthew C; Santani, Avni; Metterville, Danielle R; Kelly, Melissa; Foreman, Ann Katherine M; Lee, Kristy; Taylor, Kent D; Guo, Xiuqing; Crooks, Kristy; Kiedrowski, Lesli A; Raffel, Leslie J; Gordon, Ora; Machini, Kalotina; Desnick, Robert J; Biesecker, Leslie G; Lubitz, Steven A; Mulchandani, Surabhi; Cooper, Greg M; Joffe, Steven; Richards, C Sue; Yang, Yaoping; Rotter, Jerome I; Rich, Stephen S; O'Donnell, Christopher J; Berg, Jonathan S.
Afiliação
  • Amendola LM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Dorschner MO; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA;
  • Robertson PD; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;
  • Salama JS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Hart R; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Shirts BH; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;
  • Murray ML; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pathology, University of Washington, Seattle, Washington 98195, USA;
  • Tokita MJ; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Gallego CJ; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Kim DS; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;
  • Bennett JT; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA;
  • Crosslin DR; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;
  • Ranchalis J; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Jones KL; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA;
  • Rosenthal EA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Jarvik ER; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Itsara A; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Turner EH; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;
  • Herman DS; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA;
  • Schleit J; Department of Pathology, University of Washington, Seattle, Washington 98195, USA;
  • Burt A; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA;
  • Jamal SM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington 98195, USA;
  • Abrudan JL; Department of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;
  • Johnson AD; The Framingham Heart Study, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, Massachusetts 01702, USA;
  • Conlin LK; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;
  • Dulik MC; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;
  • Santani A; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA;
  • Metterville DR; Laboratory of Molecular Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA;
  • Kelly M; Partners Healthcare Personalized Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA;
  • Foreman AK; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;
  • Lee K; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;
  • Taylor KD; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;
  • Guo X; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;
  • Crooks K; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27514, USA;
  • Kiedrowski LA; Department of Cancer Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;
  • Raffel LJ; Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA;
  • Gordon O; Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA;
  • Machini K; Laboratory of Molecular Medicine, Partners Healthcare, Boston, Massachusetts 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA; Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA;
  • Desnick RJ; Department of Genetic and Genomic Medicine, Division of Medical Genetics, Mount Sinai Hospital, New York, New York 10029, USA;
  • Biesecker LG; Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA;
  • Lubitz SA; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;
  • Mulchandani S; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA;
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA;
  • Joffe S; Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA;
  • Richards CS; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239, USA;
  • Yang Y; Department of Pediatrics, Division of Infectious Disease, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;
  • Rotter JI; Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics at Harbor-UCLA, Torrence, California 90502, USA;
  • Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia 22908, USA;
  • O'Donnell CJ; The Framingham Heart Study, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, Massachusetts 01702, USA; Division of Cardiology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA;
  • Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA;
Genome Res ; 25(3): 305-15, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25637381
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Genômica / Achados Incidentais / Exoma Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Genômica / Achados Incidentais / Exoma Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article