Interpreting de novo Variation in Human Disease Using denovolyzeR. (6th October 2015)

• Record Type: Journal Article
• Authors: Ware, James S.; Samocha, Kaitlin E.; Homsy, Jason; Daly, Mark J.
• Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 87(2015)
• Page Start: 7.25.1
• Page End: 7.25.15
• Publication Date: 2015-10-06
• Subjects: de novo variant -- exome sequencing; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/0471142905.hg0725s87
• Languages: English
• ISSNs: 1934-8258

Abstract

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. © 2015 by John Wiley & Sons, Inc.