Parliament2: Accurate structural variant calling at scale.

ABSTRACT:

Background

Structural variants (SVs) are critical contributors to genetic diversity and genomic disease. To predict the phenotypic impact of SVs, there is a need for better estimates of both the occurrence and frequency of SVs, preferably from large, ethnically diverse cohorts. Thus, the current standard approach requires the use of short paired-end reads, which remain challenging to detect, especially at the scale of hundreds to thousands of samples.

Findings

We present Parliament2, a consensus SV framework that leverages multiple best-in-class methods to identify high-quality SVs from short-read DNA sequence data at scale. Parliament2 incorporates pre-installed SV callers that are optimized for efficient execution in parallel to reduce the overall runtime and costs. We dem

SUBMITTER: Zarate S 

PROVIDER: S-EPMC7751401 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature