Portal de Periódicos da CAPES

JAFFA: High sensitivity transcriptome-focused fusion gene detection

2015; BioMed Central; Volume: 7; Issue: 1 Linguagem: Inglês

10.1186/s13073-015-0167-x

1756-994X

N. Davidson, Ian J. Majewski, Alicia Oshlack,

RNA and protein synthesis mechanisms

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.