Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

ABSTRACT:

Background

Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approach, allowing a given library to be sequenced with both the Ion Torrent and TruSeq chemistries. Comparable sequencing efficiency was achieved using material derived from lymphoblastoid cell lines and formalin-fixed paraffin-embedded tumour.

Methods

Here, we report high-throughput application of Hi-Plex by performing blinded mutation screening of the coding regions of the breast cancer susceptibility gene PALB2 on a set of 95 blood-derived DNA samples that had previously been screened using Sanger sequencing and high-resolution melting curve analysis (n = 90),

SUBMITTER: Nguyen-Dumont T 

PROVIDER: S-EPMC3829211 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature