Clinical Annotation Reference Templates: a resource for consistent variant annotation
نویسندگان
چکیده
منابع مشابه
Genomic variant annotation workflow for clinical applications
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...
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ژورنال
عنوان ژورنال: Wellcome Open Research
سال: 2018
ISSN: 2398-502X
DOI: 10.12688/wellcomeopenres.14924.1