Article
A likelihood-based framework for variant calling and de novo mutation detection in families.
PLoS genetics - 1 Jan 2012
Li Bingshan, Chen Wei, Zhan Xiaowei, Busonero Fabio, Sanna Serena, Sidore Carlo, Cucca Francesco, Kang Hyun M, Abecasis Gonçalo R
Abstract excerpt
Family samples, which can be enriched for rare causal variants by focusing on families with multiple extreme individuals and which facilitate detection of de novo mutation events, provide an attractive resource for next-generation sequencing studies. Here, we describe, implement, and evaluate a likelihood-based framework for analysis of next generation sequence data in family samples. Our framework is able to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
