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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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Bibliografske podrobnosti
izdano v:BMC Med Genomics
Main Authors: Prodduturi, Naresh, Bhagwate, Aditya, Kocher, Jean-Pierre A., Sun, Zhifu
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Online dostop: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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