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The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Author(s) -
Howard Heather J.,
Horaitis Ourania,
Cotton Richard G.H.,
Vihinen Mauno,
Dalgleish Raymond,
Robinson Peter,
Brookes Anthony J.,
Axton Myles,
Hoffmann Robert,
TufferyGiraud Sylvie
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21175
Subject(s) - hum , biology , table (database) , annotation , ontology , library science , computational biology , engineering ethics , genetics , computer science , engineering , data mining , epistemology , philosophy , art , performance art , art history
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.