title: Interpreting de novo Variation in Human Disease Using denovolyzeR.
abstract: Spontaneously arising (de novo) genetic variants are important in human disease, yet every individual carries many such variants, with a median of 1 de novo variant affecting the protein-coding portion of the genome. A recently described mutational model provides a powerful framework for the robust statistical evaluation of such coding variants, enabling the interpretation of de novo variation in human disease. Here we describe a new open-source software package, denovolyzeR, that implements this model and provides tools for the analysis of de novo coding sequence variants.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts.|Broad Institute of MIT and Harvard, Cambridge, Massachusetts.|Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.|NIHR Cardiovascular Biomedical Research Unit at Royal Brompton Hospital and Imperial College London, London, United Kingdom.
authors.forename: James S
authors.initials: JS
authors.lastname: Ware
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts.|Broad Institute of MIT and Harvard, Cambridge, Massachusetts.|Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Kaitlin E
authors.initials: KE
authors.lastname: Samocha
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts.|Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: Jason
authors.initials: J
authors.lastname: Homsy
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts.|Broad Institute of MIT and Harvard, Cambridge, Massachusetts.|Analytical and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
mesh_terms: D019295:Computational Biology / Q000379:methods*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D008957:Models, Genetic; D015233:Models, Statistical; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012984:Software
keywords: de novo variant; exome sequencing