The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
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.
Howard
Heather J
HJ
Genomic Disorders Research Centre, Carlton South, Victoria, Australia. heather@variome.org
Horaitis
Ourania
O
Cotton
Richard G H
RG
Vihinen
Mauno
M
Dalgleish
Raymond
R
Robinson
Peter
P
Brookes
Anthony J
AJ
Axton
Myles
M
Hoffmann
Robert
R
Tuffery-Giraud
Sylvie
S
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