Blocks and Haplotypes

Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
Authors
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.

Year of Publication
2015
Journal
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
Volume
87
Pages
7.25.1-7.25.15
Date Published
2015/10/06
ISSN
1934-8266
URL
DOI
10.1002/0471142905.hg0725s87
Links