Article

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

2020-06-04

Abstract excerpt

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 wel...

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Literature Corpus work: aa53b0dc-590d-5805-a388-e93cbfceb3d6
DOI: 10.1101/2020.06.03.131532

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