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Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
Author(s) -
Oetting William S.,
Robinson Peter N.,
Greenblatt Marc S.,
Cotton Richard G.,
Beck Tim,
Carey John C.,
Doelken Sandra C.,
Girdea Marta,
Groza Tudor,
Hamilton Carol M.,
Hamosh Ada,
Kerner Berit,
MacArthur Jacqueline A. L.,
Maglott Donna R.,
Mons Barend,
Rehm Heidi L.,
Schofield Paul N.,
Searle Beverly A.,
Smedley Damian,
Smith Cynthia L.,
Bernstein Inge Thomsen,
Zankl Andreas,
Zhao Eric Y.
Publication year - 2013
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.22293
Subject(s) - phenome , biology , human genetic variation , mendelian inheritance , interoperability , human disease , phenotype , computational biology , data science , genetics , gene , human genome , computer science , world wide web , genome
A forum of the H uman V ariome P roject ( HVP ) was held as a satellite to the 2012 A nnual M eeting of the A merican S ociety of H uman G enetics in S an F rancisco, C alifornia. The theme of this meeting was “ G etting R eady for the H uman P henome P roject.” Understanding the genetic contribution to both rare single‐gene “ M endelian” disorders and more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP 's effort toward this important goal.