Fastq2vcf: a concise and transparent pipeline for whole-exome sequencing data analyses.

ABSTRACT:

Background

Whole-exome sequencing (WES) is a popular next-generation sequencing technology used by numerous laboratories with various levels of statistical and analytical expertise. Centralized databases, such as the Sequence Read Archive and the European Nucleotide Archive, allow data to be reanalyzed by independent labs to confirm results and derive additional insights. Access to new and shared data highlights the necessity for software that both lowers the statistical and analytical expertise required to generate results and promotes reproducible methodology among laboratories.

Findings

We have developed fastq2vcf, a pipeline that automates the genomic variant calling process using multiple callers. Fastq2vcf offers improved flexibility, efficiency, and reproducibility by

SUBMITTER: Gao X 

PROVIDER: S-EPMC4376134 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature