title: HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
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 accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen.
authors.affiliation: Human Genetics & Clinical Genetics, Leiden University Medical Center, Leiden, Nederland.
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.
authors.forename: Raymond
authors.initials: R
authors.lastname: Dalgleish
authors.affiliation: National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland.
authors.forename: Donna R
authors.initials: DR
authors.lastname: Maglott
authors.affiliation: Invitae, Inc, San Francisco, California.
authors.forename: Reece K
authors.initials: RK
authors.lastname: Hart
authors.affiliation: University of Vermont College of Medicine, Burlington, Vermont.
authors.forename: Marc S
authors.initials: MS
authors.lastname: Greenblatt
authors.affiliation: Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Jean
authors.initials: J
authors.lastname: McGowan-Jordan
authors.affiliation: Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier, France.
authors.forename: Anne-Francoise
authors.initials: AF
authors.lastname: Roux
authors.affiliation: Human Variome Project International Coordinating Office, Melbourne, Australia.
authors.forename: Timothy
authors.initials: T
authors.lastname: Smith
authors.affiliation: Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland.
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.affiliation: Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.
authors.forename: Peter E M
authors.initials: PE
authors.lastname: Taschner
mesh_terms: D014644:Genetic Variation; D015894:Genome, Human; D017408:Guidelines as Topic; D016045:Human Genome Project / Q000458:organization & administration*; D006801:Humans; D017422:Sequence Analysis, DNA; D009626:Terminology as Topic
keywords: database; mutation; nomenclature; sequence variation; standards