Assessing structural variation in a personal genome-towards a human reference diploid genome.

ABSTRACT:

Background

Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural variants (SVs), they remain less characterized than smaller variants because of SV diversity, complexity, and size. These challenges are exacerbated by the experimental and computational demands of SV analysis. Here, we characterize the SV content of a personal genome with Parliament, a publicly available consensus SV-calling infrastructure that merges multiple data types and SV detection methods.

Results

We demonstrate Parliament's efficacy via integrated analyses of data from whole-genome array comparative genomic hybridization, short-read next-generation sequen

SUBMITTER: English AC 

PROVIDER: S-EPMC4490614 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature