The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"

• Published in: Human Mutation Vol. 31; no. 3; pp. 366 - 367
• Main Authors: Howard, Heather J., Horaitis, Ourania, Cotton, Richard G.H., Vihinen, Mauno, Dalgleish, Raymond, Robinson, Peter, Brookes, Anthony J., Axton, Myles, Hoffmann, Robert, Tuffery-Giraud, Sylvie
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2010; Hindawi Limited; Wiley
• Subjects: Algorithms; Databases, Genetic; DNA Mutational Analysis; genetic disease; Genetic Predisposition to Disease; Genetic Variation; Genome, Human; Genomics - standards; Humans; HVP; Life Sciences; Mutation; Phenotype; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; SNP
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/humu.21175

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. Hum Mutat 31:1–2, 2010. © 2010 Wiley‐Liss, Inc.