Article
Phasing for medical sequencing using rare variants and large haplotype reference panels.
Bioinformatics (Oxford, England) - 1 Jul 2016
Sharp Kevin, Kretzschmar Warren, Delaneau Olivier, Marchini Jonathan
Abstract excerpt
MOTIVATION: There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be available. We describe a method that takes advantage of these huge human genetic variation resources and rare variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.