BreakTrans

BreakTrans maps predicted gene fusions to their corresponding genomic structural rearrangements to validate fusion predictions and characterize rearrangement events.


Key Features:

  • Validation of Predictions: Associates predicted gene fusions with specific genomic structural rearrangements to confirm fusion events.
  • Discovery of Novel Events: Identifies previously unrecognized gene fusion events by linking fusion predictions to structural alterations.
  • Mechanistic Interpretation: Links gene fusions to structural rearrangements to provide mechanistic insights into how rearrangements generate fusion transcripts.

Scientific Applications:

  • Cancer Research and Diagnosis: Detects gene fusions and their originating genomic alterations to inform personalized cancer research and targeted therapy development.
  • Tumor Evolution Studies: Elucidates relationships between structural rearrangements and oncogenic processes to support studies of tumor evolution.

Methodology:

Computationally correlates predicted gene fusions with structural rearrangements through analysis of genomic data and has been applied to validate known fusions and discover novel ones in breast cancer cell lines.

Topics

Details

Tool Type:
command-line tool
Programming Languages:
Perl
Added:
1/13/2017
Last Updated:
11/25/2024

Operations

Publications

Chen K, Navin NE, Wang Y, Schmidt HK, Wallis JW, Niu B, Fan X, Zhao H, McLellan MD, Hoadley KA, Mardis ER, Ley TJ, Perou CM, Wilson RK, Ding L. BreakTrans: uncovering the genomic architecture of gene fusions. Genome Biology. 2013;14(8). doi:10.1186/gb-2013-14-8-r87. PMID:23972288. PMCID:PMC4054677.

Documentation