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The mutation significance cutoff: gene-level thresholds for variant predictions.
Itan, Yuval; Shang, Lei; Boisson, Bertrand; Ciancanelli, Michael J; Markle, Janet G; Martinez-Barricarte, Ruben; Scott, Eric; Shah, Ishaan; Stenson, Peter D; Gleeson, Joseph; Cooper, David N; Quintana-Murci, Lluis; Zhang, Shen-Ying; Abel, Laurent; Casanova, Jean-Laurent.
Afiliação
  • Itan Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Shang L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Ciancanelli MJ; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Markle JG; Paris Descartes University, Imagine Institute, Paris, France.
  • Martinez-Barricarte R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Scott E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Shah I; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Stenson PD; Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
  • Gleeson J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
  • Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Quintana-Murci L; Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
  • Zhang SY; Howard Hughes Medical Institute, New York, New York, USA.
  • Abel L; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Casanova JL; Human Evolutionary Genetics Unit, Institut Pasteur, Paris, France.
Nat Methods ; 13(2): 109-10, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26820543

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Técnicas de Amplificação de Ácido Nucleico Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Técnicas de Amplificação de Ácido Nucleico Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article