Dataset Information

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

ABSTRACT:

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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.

SUBMITTER: Newman AM

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

REPOSITORIES: biostudies-literature

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Publications

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

Newman Aaron M AM Bratman Scott V SV Stehr Henning H Lee Luke J LJ Liu Chih Long CL Diehn Maximilian M Alizadeh Ash A AA

Bioinformatics (Oxford, England) 20140820 23

<h4>Unlabelled</h4>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 ...[more]

PMID: 25143292

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Dataset Information

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

Unlabelled

Availability and implementation

Publications

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

Similar Datasets

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