HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human Mutation

Volumn 37, Issue 6, 2016, Pages 564-569

  den Dunnen, Johan T ^a   Dalgleish, Raymond ^b   Maglott, Donna R ^c   Hart, Reece K ^d   Greenblatt, Marc S ^e   Mcgowan Jordan, Jean ^f   Roux, Anne Francoise ^g   Smith, Timothy ^h   Antonarakis, Stylianos E ⁱ   Taschner, Peter E M ^j  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation   (United States)

^e UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

^h Human Variome Project International Ltd   (Australia)

ⁱ UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^j UNIVERSITY OF APPLIED SCIENCES LEIDEN   (Netherlands)

more..

Author keywords

Database; Mutation; Nomenclature; Sequence variation; Standards

Indexed keywords

ARTICLE; GENE SEQUENCE; GENETIC VARIABILITY; HUGO GENE NOMENCLATURE; HUMAN GENOME; INFORMATION PROCESSING; MEDICAL SOCIETY; PRACTICE GUIDELINE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; DNA SEQUENCE; GENETIC VARIATION; HUMAN; HUMAN GENOME PROJECT; NOMENCLATURE; ORGANIZATION AND MANAGEMENT;

GENETIC VARIATION; GENOME, HUMAN; GUIDELINES AS TOPIC; HUMAN GENOME PROJECT; HUMANS; SEQUENCE ANALYSIS, DNA; TERMINOLOGY AS TOPIC;

EID: 84961616450     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22981     Document Type: Article

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