Work

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

Year: 2014

Type: article

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. AVAILABILITY AND IMPLEMENTATION: http://factera.stanford.edu.

Source: Bioinformatics

DOI: 10.1093/bioinformatics/btu549