PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.

ABSTRACT:

Background

Generation of long (>5 Kb) DNA sequencing reads provides an approach for interrogation of complex regions in the human genome. Currently, large-insert whole genome sequencing (WGS) technologies from Pacific Biosciences (PacBio) enable analysis of chromosomal structural variations (SVs), but the cost to achieve the required sequence coverage across the entire human genome is high.

Results

We developed a method (termed PacBio-LITS) that combines oligonucleotide-based DNA target-capture enrichment technologies with PacBio large-insert library preparation to facilitate SV studies at specific chromosomal regions. PacBio-LITS provides deep sequence coverage at the specified sites at substantially reduced cost compared with PacBio WGS. The efficacy of PacBio-LITS is illu

SUBMITTER: Wang M 

PROVIDER: S-EPMC4376517 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature