Article

Clinical Annotation Reference Templates: a resource for consistent variant annotation

2018-11-14

Abstract excerpt

Annotating the impact of a variant on a gene is a vital component of genetic medicine and genetic research. Different gene annotations for the same genomic variant are possible, because different structures and sequences for the same gene are available. The clinical community typically use RefSeq NMs to annotate gene variation, which do not always match the reference genome. The scientific community typically use...

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Literature Corpus work: 6c2cbdc2-36b8-5fd1-9c8b-e9a96a9ada7b
DOI: 10.12688/wellcomeopenres.14924.1

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