FACTERA: a practical method for the discovery of genomic rearrangements at breakpoint resolution.

ABSTRACT:

Unlabelled

For practical and robust de novo identification of genomic fusions and breakpoints from targeted paired-end DNA sequencing data, we developed Fusion And Chromosomal Translocation Enumeration and Recovery Algorithm (FACTERA). Our method has minimal external dependencies, works directly on a preexisting Binary Alignment/Map file and produces easily interpretable output. We demonstrate FACTERA's ability to rapidly identify breakpoint-resolution fusion events with high sensitivity and specificity in patients with non-small cell lung cancer, including novel rearrangements. We anticipate that FACTERA will be broadly applicable to the discovery and analysis of clinically relevant fusions from both targeted and genome-wide sequencing datasets.

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SUBMITTER: Newman AM 

PROVIDER: S-EPMC4296148 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature