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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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Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Prodduturi, Naresh, Bhagwate, Aditya, Kocher, Jean-Pierre A., Sun, Zhifu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Accès en ligne: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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