HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Work
Year: 2016
Type: article
Abstract: The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accura... more
Source: Human Mutation
Authors Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott, Reece K. Hart, Marc S. Greenblatt +5 more
Institutions Leiden University Medical Center, University of Leicester, National Institutes of Health, National Center for Biotechnology Information, Invitae (United States) +6 more
Cites: 19
Cited by: 1,392
Related to: 10
FWCI: 77.19
Citation percentile (by year/subfield): 100
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal Partnerships for the goals
Open Access status: green