Detection and characterization of novel sequence insertions using paired-end next-generation sequencing.

ABSTRACT:

Motivation

In the past few years, human genome structural variation discovery has enjoyed increased attention from the genomics research community. Many studies were published to characterize short insertions, deletions, duplications and inversions, and associate copy number variants (CNVs) with disease. Detection of new sequence insertions requires sequence data, however, the 'detectable' sequence length with read-pair analysis is limited by the insert size. Thus, longer sequence insertions that contribute to our genetic makeup are not extensively researched.

Results

We present NovelSeq: a computational framework to discover the content and location of long novel sequence insertions using paired-end sequencing data generated by the next-generation sequencing platforms. Our

SUBMITTER: Hajirasouliha I 

PROVIDER: S-EPMC2865866 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature