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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Maffucci, Patrick; Bigio, Benedetta; Rapaport, Franck; Cobat, Aurélie; Borghesi, Alessandro; Lopez, Marie; Patin, Etienne; Bolze, Alexandre; Shang, Lei; Bendavid, Matthieu; Scott, Eric M; Stenson, Peter D; Cunningham-Rundles, Charlotte; Cooper, David N; Gleeson, Joseph G; Fellay, Jacques; Quintana-Murci, Lluis; Casanova, Jean-Laurent; Abel, Laurent; Boisson, Bertrand; Itan, Yuval.
Afiliação
  • Maffucci P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Bigio B; Immunology Institute, Graduate School, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Rapaport F; Department of Medicine, Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
  • Cobat A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Borghesi A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Lopez M; Imagine Institute, Paris Descartes University, 75015 Paris, France.
  • Patin E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Bolze A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Shang L; Imagine Institute, Paris Descartes University, 75015 Paris, France.
  • Bendavid M; School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.
  • Scott EM; Human Evolutionary Genetics Unit, Pasteur Institute, 75015 Paris, France.
  • Stenson PD; CNRS UMR2000, 75015 Paris, France.
  • Cunningham-Rundles C; Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, 75015 Paris, France.
  • Cooper DN; Human Evolutionary Genetics Unit, Pasteur Institute, 75015 Paris, France.
  • Gleeson JG; CNRS UMR2000, 75015 Paris, France.
  • Fellay J; Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, 75015 Paris, France.
  • Quintana-Murci L; Helix, San Carlos, CA 94070.
  • Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Boisson B; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093.
  • Itan Y; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, United Kingdom.
Proc Natl Acad Sci U S A ; 116(3): 950-959, 2019 01 15.
Article em En | MEDLINE | ID: mdl-30591557
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Software / Genoma Humano / Análise de Sequência de DNA / Bases de Dados de Ácidos Nucleicos / Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Software / Genoma Humano / Análise de Sequência de DNA / Bases de Dados de Ácidos Nucleicos / Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article