Article
TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data.
BMC medical genomics - 10 Sept 2018
Chiu Readman, Nip Ka Ming, Chu Justin, Birol Inanc
Abstract excerpt
BACKGROUND: RNA-seq is a powerful and cost-effective technology for molecular diagnostics of cancer and other diseases, and it can reach its full potential when coupled with validated clinical-grade informatics tools. Despite recent advances in long-read sequencing, transcriptome assembly of short reads remains a useful and cost-effective methodology for unveiling transcript-level rearrangements and novel...
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