Article
Reference-based phasing using the Haplotype Reference Consortium panel.
Nature genetics - 1 Nov 2016
Loh Po-Ru, Danecek Petr, Palamara Pier Francesco, Fuchsberger Christian, A Reshef Yakir, K Finucane Hilary, Schoenherr Sebastian, Forer Lukas, McCarthy Shane, Abecasis Goncalo R, Durbin Richard, L Price Alkes
Abstract excerpt
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing in a genotyped cohort, an approach that can yield high accuracy in very large cohorts but attains lower accuracy in smaller cohorts. Here we instead explore the paradigm of reference-based phasing. We introduce a new phasing algorithm, Eagle2, that attains high accuracy across a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.