Article
Rare variant detection using family-based sequencing analysis.
Proceedings of the National Academy of Sciences of the United States of America - 5 Mar 2013
Peng Gang, Fan Yu, Palculict Timothy B, Shen Peidong, Ruteshouser E Cristy, Chi Aung-Kyaw, Davis Ronald W, Huff Vicki, Scharfe Curt, Wang Wenyi
Abstract excerpt
Next-generation sequencing is revolutionizing genomic analysis, but this analysis can be compromised by high rates of missing true variants. To develop a robust statistical method capable of identifying variants that would otherwise not be called, we conducted sequence data simulations and both whole-genome and targeted sequencing data analysis of 28 families. Our method (Family-Based Sequencing Program, FamSeq)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.