In:
Bioinformatics, Oxford University Press (OUP), Vol. 30, No. 23 ( 2014-12-01), p. 3390-3393
Abstract:
Summary: 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. Contact: arasha@stanford.edu or diehn@stanford.edu Supplementary information: Supplementary data are available at Bioinformatics online.
Type of Medium:
Online Resource
ISSN:
1367-4811
,
1367-4803
DOI:
10.1093/bioinformatics/btu549
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2014
detail.hit.zdb_id:
1468345-3
SSG:
12
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