title: Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.
abstract: A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project." Understanding the genetic contribution to both rare single-gene "Mendelian" 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.
authors: Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, USA. oetti001@umn.edu
authors: William S
authors: WS
authors: Oetting
authors: Peter N
authors: PN
authors: Robinson
authors: Marc S
authors: MS
authors: Greenblatt
authors: Richard G
authors: RG
authors: Cotton
authors: Tim
authors: T
authors: Beck
authors: John C
authors: JC
authors: Carey
authors: Sandra C
authors: SC
authors: Doelken
authors: Marta
authors: M
authors: Girdea
authors: Tudor
authors: T
authors: Groza
authors: Carol M
authors: CM
authors: Hamilton
authors: Ada
authors: A
authors: Hamosh
authors: Berit
authors: B
authors: Kerner
authors: Jacqueline A L
authors: JA
authors: MacArthur
authors: Donna R
authors: DR
authors: Maglott
authors: Barend
authors: B
authors: Mons
authors: Heidi L
authors: HL
authors: Rehm
authors: Paul N
authors: PN
authors: Schofield
authors: Beverly A
authors: BA
authors: Searle
authors: Damian
authors: D
authors: Smedley
authors: Cynthia L
authors: CL
authors: Smith
authors: Inge Thomsen
authors: IT
authors: Bernstein
authors: Andreas
authors: A
authors: Zankl
authors: Eric Y
authors: EY
authors: Zhao
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D016045:Human Genome Project; D006801:Humans; D010641:Phenotype
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