{"id":"W2309021002","doi":"10.1002/humu.22981","title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","year":2016,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1696,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Strong","keywords":"Sequence (biology); Human genome; Biology; Genome; Reference genome; Computer science; Computational biology; Data science; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04410373631678449,"score_gpt":0.3012672856171216,"score_spread":0.2571635493003371,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}