title: The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
abstract: The May 2009 Human Variome Project (HVP) Forum "Towards Establishing Standards" was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed.
authors.affiliation: Genomic Disorders Research Centre, Carlton South, Victoria, Australia. heather@variome.org
authors.forename: Heather J
authors.initials: HJ
authors.lastname: Howard
authors.forename: Ourania
authors.initials: O
authors.lastname: Horaitis
authors.forename: Richard G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: Mauno
authors.initials: M
authors.lastname: Vihinen
authors.forename: Raymond
authors.initials: R
authors.lastname: Dalgleish
authors.forename: Peter
authors.initials: P
authors.lastname: Robinson
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: Myles
authors.initials: M
authors.lastname: Axton
authors.forename: Robert
authors.initials: R
authors.lastname: Hoffmann
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
mesh_terms: D000465:Algorithms; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000592:standards; D006801:Humans; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA