Journal article

MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq data

Marek Cmero, Breon Schmidt, Ian Majewski, Paul Ekert, Alicia Oshlack, Nadia Davidson

Published : 2020


Genomic rearrangements can modify gene function by altering transcript sequences, and have been shown to be drivers in both cancer and rare diseases. Although there are now many methods to detect structural variants from Whole Genome Sequencing (WGS), RNA sequencing (RNA-seq) remains under-utilised as a technology for the detection of gene altering structural variants. Calling fusion genes from RNA-seq data is well established, but other transcriptional variants such as fusions with novel sequence, tandem duplications, large insertions and deletions, and novel splicing are difficult to detect using existing approaches. To identify all types of variants in transcriptomes, we developed MINTIE,..

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