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Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Manheimer, Kathryn B; Patel, Nihir; Richter, Felix; Gorham, Joshua; Tai, Angela C; Homsy, Jason; Boskovski, Marko T; Parfenov, Michael; Goldmuntz, Elizabeth; Chung, Wendy K; Brueckner, Martina; Tristani-Firouzi, Martin; Srivastava, Deepak; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D; Sharp, Andrew J.
Afiliação
  • Manheimer KB; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Patel N; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Richter F; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Gorham J; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
  • Tai AC; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
  • Homsy J; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
  • Boskovski MT; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
  • Parfenov M; Division of Cardiac Surgery, The Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Goldmuntz E; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
  • Chung WK; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Brueckner M; Division of Cardiology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Tristani-Firouzi M; Department of Pediatrics, Columbia University Medical Center, New York, New York.
  • Srivastava D; Department of Medicine, Columbia University Medical Center, New York, New York.
  • Seidman JG; Genetics, Yale University School of Medicine, New Haven, Connecticut.
  • Seidman CE; Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
  • Gelb BD; Department of Pediatric Cardiology, University of Utah, Salt Lake City, Utah.
  • Sharp AJ; Department of Pediatrics, UCSF, San Francisco, California.
Hum Mutat ; 39(6): 870-881, 2018 06.
Article em En | MEDLINE | ID: mdl-29527824
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Genoma Humano / Deleção de Sequência / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Genoma Humano / Deleção de Sequência / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article