Reducing INDEL calling errors in whole genome and exome sequencing data.

ABSTRACT:

Background

INDELs, especially those disrupting protein-coding regions of the genome, have been strongly associated with human diseases. However, there are still many errors with INDEL variant calling, driven by library preparation, sequencing biases, and algorithm artifacts.

Methods

We characterized whole genome sequencing (WGS), whole exome sequencing (WES), and PCR-free sequencing data from the same samples to investigate the sources of INDEL errors. We also developed a classification scheme based on the coverage and composition to rank high and low quality INDEL calls. We performed a large-scale validation experiment on 600 loci, and find high-quality INDELs to have a substantially lower error rate than low-quality INDELs (7% vs. 51%).

Results

Simulation and experi

SUBMITTER: Fang H 

PROVIDER: S-EPMC4240813 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature