Article
Accurate and comprehensive sequencing of personal genomes.
Genome research - 1 Sept 2011
Ajay Subramanian S, Parker Stephen C J, Abaan Hatice Ozel, Fajardo Karin V Fuentes, Margulies Elliott H
Abstract excerpt
As whole-genome sequencing becomes commoditized and we begin to sequence and analyze personal genomes for clinical and diagnostic purposes, it is necessary to understand what constitutes a complete sequencing experiment for determining genotypes and detecting single-nucleotide variants. Here, we show that the current recommendation of ∼30× coverage is not adequate to produce genotype calls across a large fraction...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.