Genomic variant annotation workflow for clinical applications.
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ABSTRACT:
SUBMITTER: Thurnherr T
PROVIDER: S-EPMC5130070 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
Genomic variant annotation workflow for clinical applications.
Thurnherr Thomas T Singer Franziska F Stekhoven Daniel J DJ Beerenwinkel Niko N
F1000Research 20160812
Annotation and interpretation of DNA aberrations identified through next-generation sequencing is becoming an increasingly important task. Even more so in the context of data analysis pipelines for medical applications, where genomic aberrations are associated with phenotypic and clinical features. Here we describe a workflow to identify potential gene targets in aberrated genes or pathways and their corresponding drugs. To this end, we provide the R/Bioconductor package rDGIdb, an R wrapper to ...[more]
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