Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

ABSTRACT: To meet challenges in terms of throughput and turnaround time, many diagnostic laboratories are shifting from Sanger sequencing to higher throughput next-generation sequencing (NGS) platforms. Bearing in mind that the performance and quality criteria expected from NGS in diagnostic or research settings are strikingly different, we have developed an Ion Torrent's PGM-based routine diagnostic procedure for BRCA1/2 sequencing. The procedure was first tested on a training set of 62 control samples, and then blindly validated on 77 samples in parallel with our routine technique. The training set was composed of difficult cases, for example, insertions and/or deletions of various sizes, large-scale rearrangements and, obviously, mutations occurring in homopolymer regions. We also compared two bi

SUBMITTER: Tarabeux J 

PROVIDER: S-EPMC3953907 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature