Article

Ultrasensitive gene fusion detection reveals fusion variant associated tumor heterogeneity

2020-08-01

Abstract excerpt

<title>Abstract</title> <p>Gene fusions are common drivers and therapeutic targets in cancers, but clinical-grade bioinformatics callers are lacking. Here we introduce a novel method SplitFusion, which is fast by leveraging BWA-MEM split alignments, can detect cryptic splice site fusions, and can infer frame-ness and exon-boundary alignments for functional prediction and minimizing false-positives. SplitFusion de...

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Literature Corpus work: b31e61bb-2178-5e9d-8779-1a8b8b22bf1d
DOI: 10.21203/rs.3.rs-39138/v1

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