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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; Bowling, Kevin M; Chao, Elizabeth C; Chung, Wendy K; Conlin, Laura K; Cooper, Gregory M; Das, Soma; Deignan, Joshua L; Dorschner, Michael O; Evans, James P; Ghazani, Arezou A; Goddard, Katrina A; Gornick, Michele; Farwell Hagman, Kelly D; Hambuch, Tina; Hegde, Madhuri; Hindorff, Lucia A; Holm, Ingrid A; Jarvik, Gail P; Knight Johnson, Amy; Mighion, Lindsey; Morra, Massimo; Plon, Sharon E; Punj, Sumit; Richards, C Sue; Santani, Avni; Shirts, Brian H; Spinner, Nancy B; Tang, Sha; Weck, Karen E; Wolf, Susan M; Yang, Yaping; Rehm, Heidi L.
Afiliação
  • O'Daniel JM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • McLaughlin HM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA.
  • Amendola LM; Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
  • Bale SJ; GeneDx, Inc., Gaithersburg, Maryland, USA.
  • Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Bick D; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Chao EC; Ambry Genetics, Aliso Viejo, California, USA.
  • Chung WK; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA.
  • Conlin LK; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Cooper GM; Department of Medicine, Columbia University, New York, New York, USA.
  • Das S; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Deignan JL; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Dorschner MO; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
  • Evans JP; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Ghazani AA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Goddard KA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Gornick M; Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA.
  • Farwell Hagman KD; Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon, USA.
  • Hambuch T; Department of Internal Medicine, Center for Bioethics Social Science and Medicine, University of Michigan, Ann Arbor, Michigan, USA.
  • Hegde M; Ambry Genetics, Aliso Viejo, California, USA.
  • Hindorff LA; Illumina, Inc., San Diego, California, USA.
  • Holm IA; Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
  • Jarvik GP; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Knight Johnson A; Division of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Mighion L; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Morra M; Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
  • Plon SE; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Punj S; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
  • Richards CS; Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
  • Santani A; Personalis, Inc., Menlo Park, California, USA.
  • Shirts BH; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Spinner NB; Department of Molecular and Medical Genetics, Oregon Health &Science University, Portland, Oregon, USA.
  • Tang S; Department of Molecular and Medical Genetics, Oregon Health &Science University, Portland, Oregon, USA.
  • Weck KE; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Wolf SM; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
  • Yang Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Rehm HL; Ambry Genetics, Aliso Viejo, California, USA.
Genet Med ; 19(5): 575-582, 2017 05.
Article em En | MEDLINE | ID: mdl-27811861
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise de Sequência de DNA / Laboratórios Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise de Sequência de DNA / Laboratórios Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos