Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

ABSTRACT: Next-generation sequencing has aided characterization of genomic variation. While whole-genome sequencing may capture all possible mutations, whole-exome sequencing remains cost-effective and captures most phenotype-altering mutations. Initial strategies for exome enrichment utilized a hybridization-based capture approach. Recently, amplicon-based methods were designed to simplify preparation and utilize smaller DNA inputs. We evaluated two hybridization capture-based and two amplicon-based whole-exome sequencing approaches, utilizing both Illumina and Ion Torrent sequencers, comparing on-target alignment, uniformity, and variant calling. While the amplicon methods had higher on-target rates, the hybridization capture-based approaches demonstrated better uniformity. All methods identified

SUBMITTER: Samorodnitsky E 

PROVIDER: S-EPMC4832303 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature