Considerations for clinical read alignment and mutational profiling using next-generation sequencing.

ABSTRACT: Next-generation sequencing technologies are increasingly being applied in clinical settings, however the data are characterized by a range of platform-specific artifacts making downstream analysis problematic and error- prone. One major application of NGS is in the profiling of clinically relevant mutations whereby sequences are aligned to a reference genome and potential mutations assessed and scored. Accurate sequence alignment is pivotal in reliable assessment of potential mutations however selection of appropriate alignment tools is a non-trivial task complicated by the availability of multiple solutions each with its own performance characteristics. Using targeted analysis of BRCA1 as an example, we have simulated and mutated a test dataset based on Illumina sequencing technology. Our

SUBMITTER: Oliver GR 

PROVIDER: S-EPMC3945748 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature