ABRA: improved coding indel detection via assembly-based realignment.

ABSTRACT:

Motivation

Variant detection from next-generation sequencing (NGS) data is an increasingly vital aspect of disease diagnosis, treatment and research. Commonly used NGS-variant analysis tools generally rely on accurately mapped short reads to identify somatic variants and germ-line genotypes. Existing NGS read mappers have difficulty accurately mapping short reads containing complex variation (i.e. more than a single base change), thus making identification of such variants difficult or impossible. Insertions and deletions (indels) in particular have been an area of great difficulty. Indels are frequent and can have substantial impact on function, which makes their detection all the more imperative.

Results

We present ABRA, an assembly-based realigner, which uses an efficient

SUBMITTER: Mose LE 

PROVIDER: S-EPMC4173014 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature