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

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

Abstract 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...

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Bibliographic Details
Main Authors: Readman Chiu, Ka Ming Nip, Justin Chu, Inanc Birol
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genomics
Subjects:
RNA-seq
Transcriptome assembly
Clinical genomics
Gene fusion
Alternative splicing
Internal tandem duplication
Online Access:http://link.springer.com/article/10.1186/s12920-018-0402-6

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http://link.springer.com/article/10.1186/s12920-018-0402-6

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