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TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data

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 r...

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Detalles Bibliográficos
Publicado en:BMC Med Genomics
Main Authors: Chiu, Readman, Nip, Ka Ming, Chu, Justin, Birol, Inanc
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6131862/
https://ncbi.nlm.nih.gov/pubmed/30200994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0402-6
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