PBHoney: identifying genomic variants via long-read discordance and interrupted mapping.

ABSTRACT:

Background

As resequencing projects become more prevalent across a larger number of species, accurate variant identification will further elucidate the nature of genetic diversity and become increasingly relevant in genomic studies. However, the identification of larger genomic variants via DNA sequencing is limited by both the incomplete information provided by sequencing reads and the nature of the genome itself. Long-read sequencing technologies provide high-resolution access to structural variants often inaccessible to shorter reads.

Results

We present PBHoney, software that considers both intra-read discordance and soft-clipped tails of long reads (>10,000 bp) to identify structural variants. As a proof of concept, we identify four structural variants and two genomic fe

SUBMITTER: English AC 

PROVIDER: S-EPMC4082283 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature