Vindel: a simple pipeline for checking indel redundancy.

ABSTRACT:

Background

With the advance of next generation sequencing (NGS) technologies, a large number of insertion and deletion (indel) variants have been identified in human populations. Despite much research into variant calling, it has been found that a non-negligible proportion of the identified indel variants might be false positives due to sequencing errors, artifacts caused by ambiguous alignments, and annotation errors.

Results

In this paper, we examine indel redundancy in dbSNP, one of the central databases for indel variants, and develop a standalone computational pipeline, dubbed Vindel, to detect redundant indels. The pipeline first applies indel position information to form candidate redundant groups, then performs indel mutations to the reference genome to generate corr

SUBMITTER: Li Z 

PROVIDER: S-EPMC4245841 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature