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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Chiang, Theodore; Liu, Xiuping; Wu, Tsung-Jung; Hu, Jianhong; Sedlazeck, Fritz J; White, Simon; Schaid, Daniel; Andrade, Mariza de; Jarvik, Gail P; Crosslin, David; Stanaway, Ian; Carrell, David S; Connolly, John J; Hakonarson, Hakon; Groopman, Emily E; Gharavi, Ali G; Fedotov, Alexander; Bi, Weimin; Leduc, Magalie S; Murdock, David R; Jiang, Yunyun; Meng, Linyan; Eng, Christine M; Wen, Shu; Yang, Yaping; Muzny, Donna M; Boerwinkle, Eric; Salerno, William; Venner, Eric; Gibbs, Richard A.
Afiliação
  • Chiang T; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. tchiangbcm@gmail.com.
  • Liu X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Wu TJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • White S; Helix OpCo LLC, San Francisco, CA, USA.
  • Schaid D; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
  • Andrade M; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
  • Jarvik GP; University of Washington Medical Center, Seattle, WA, USA.
  • Crosslin D; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
  • Stanaway I; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
  • Carrell DS; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
  • Connolly JJ; Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hakonarson H; Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Groopman EE; Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA.
  • Gharavi AG; Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA.
  • Fedotov A; Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Leduc MS; Baylor Genetics Laboratories, Houston, TX, USA.
  • Murdock DR; Veritas Genetics, Danvers, MA, USA.
  • Jiang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Eng CM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Wen S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yang Y; Baylor Genetics Laboratories, Houston, TX, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Boerwinkle E; Baylor Genetics Laboratories, Houston, TX, USA.
  • Salerno W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Venner E; Baylor Genetics Laboratories, Houston, TX, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Genet Med ; 21(9): 2135-2144, 2019 09.
Article em En | MEDLINE | ID: mdl-30890783
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Genoma Humano / Éxons / Variações do Número de Cópias de DNA Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Genoma Humano / Éxons / Variações do Número de Cópias de DNA Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article