title: The mutation significance cutoff: gene-level thresholds for variant predictions.
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Yuval
authors.initials: Y
authors.lastname: Itan
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Lei
authors.initials: L
authors.lastname: Shang
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.|Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Boisson
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ciancanelli
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Janet G
authors.initials: JG
authors.lastname: Markle
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Ruben
authors.initials: R
authors.lastname: Martinez-Barricarte
authors.affiliation: Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Scott
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
authors.forename: Ishaan
authors.initials: I
authors.lastname: Shah
authors.affiliation: Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: Peter D
authors.initials: PD
authors.lastname: Stenson
authors.affiliation: Neurogenetics Laboratory, Department of Neurosciences, University of California, San Diego, San Diego, California, USA.|Howard Hughes Medical Institute, New York, New York, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Gleeson
authors.affiliation: Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.affiliation: Human Evolutionary Genetics Unit, Institut Pasteur, Paris, France.|Centre National de la Recherche Scientifique, URA 3012, Paris, France.
authors.forename: Lluis
authors.initials: L
authors.lastname: Quintana-Murci
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.|Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Shen-Ying
authors.initials: SY
authors.lastname: Zhang
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.|Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.|Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.|Howard Hughes Medical Institute, New York, New York, USA.|Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*
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