Toward better understanding of artifacts in variant calling from high-coverage samples.

ABSTRACT:

Motivation

Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the leading causal artifacts still remain unclear even given the great efforts in the evaluation of variant calling methods.

Results

We made 10 single nucleotide polymorphism and INDEL call sets with two read mappers and five variant callers, both on a haploid human genome and a diploid genome at a similar coverage. By investigating false heterozygous calls in the haploid genome, we identified the erroneous realignment in low-complexity regions and the incomplete reference genome with respect to the sample as the two major sources of e

SUBMITTER: Li H 

PROVIDER: S-EPMC4271055 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature