Characterization of structural variants with single molecule and hybrid sequencing approaches.

ABSTRACT:

Motivation

Structural variation is common in human and cancer genomes. High-throughput DNA sequencing has enabled genome-scale surveys of structural variation. However, the short reads produced by these technologies limit the study of complex variants, particularly those involving repetitive regions. Recent 'third-generation' sequencing technologies provide single-molecule templates and longer sequencing reads, but at the cost of higher per-nucleotide error rates.

Results

We present MultiBreak-SV, an algorithm to detect structural variants (SVs) from single molecule sequencing data, paired read sequencing data, or a combination of sequencing data from different platforms. We demonstrate that combining low-coverage third-generation data from Pacific Biosciences (PacBio) with

SUBMITTER: Ritz A 

PROVIDER: S-EPMC4253835 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature