Indel sensitive and comprehensive variant/mutation detection from RNA sequencing data for precision medicine

BACKGROUND: RNA-seq is the most commonly used sequencing application. Not only does it measure gene expression but it is also an excellent media to detect important structural variants such as single nucleotide variants (SNVs), insertion/deletion (Indels) or fusion transcripts. However, detection of...

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Bibliographic Details
Published in:BMC Med Genomics
Main Authors: Prodduturi, Naresh, Bhagwate, Aditya, Kocher, Jean-Pierre A., Sun, Zhifu
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6157028/
https://ncbi.nlm.nih.gov/pubmed/30255803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0391-5
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