JAFFA: High Sensitivity Transcriptome-focused Fusion Gene Detection

Overview

Journal Genome Med

Publisher Biomed Central

Specialty Genetics

Date 2015 May 29

PMID 26019724

Citations 90

Authors

Nadia M Davidson

Ian J Majewski

Alicia Oshlack

Affiliations

Soon will be listed here.

Abstract

Genomic instability is a hallmark of cancer and, as such, structural alterations and fusion genes are common events in the cancer landscape. RNA sequencing (RNA-Seq) is a powerful method for profiling cancers, but current methods for identifying fusion genes are optimised for short reads. JAFFA (https://github.com/Oshlack/JAFFA/wiki) is a sensitive fusion detection method that outperforms other methods with reads of 100 bp or greater. JAFFA compares a cancer transcriptome to the reference transcriptome, rather than the genome, where the cancer transcriptome is inferred using long reads directly or by de novo assembling short reads.

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