title: The PhenX Toolkit: get the most from your measures.
abstract: The potential for genome-wide association studies to relate phenotypes to specific genetic variation is greatly increased when data can be combined or compared across multiple studies. To facilitate replication and validation across studies, RTI International (Research Triangle Park, North Carolina) and the National Human Genome Research Institute (Bethesda, Maryland) are collaborating on the consensus measures for Phenotypes and eXposures (PhenX) project. The goal of PhenX is to identify 15 high-priority, well-established, and broadly applicable measures for each of 21 research domains. PhenX measures are selected by working groups of domain experts using a consensus process that includes input from the scientific community. The selected measures are then made freely available to the scientific community via the PhenX Toolkit. Thus, the PhenX Toolkit provides the research community with a core set of high-quality, well-established, low-burden measures intended for use in large-scale genomic studies. PhenX measures will have the most impact when included at the experimental design stage. The PhenX Toolkit also includes links to standards and resources in an effort to facilitate data harmonization to legacy data. Broad acceptance and use of PhenX measures will promote cross-study comparisons to increase statistical power for identifying and replicating variants associated with complex diseases and with gene-gene and gene-environment interactions.
authors.affiliation: RTI International, Research Triangle Park, North Carolina 27709, USA. chamilton@rti.org
authors.forename: Carol M
authors.initials: CM
authors.lastname: Hamilton
authors.forename: Lisa C
authors.initials: LC
authors.lastname: Strader
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Pratt
authors.forename: Deborah
authors.initials: D
authors.lastname: Maiese
authors.forename: Tabitha
authors.initials: T
authors.lastname: Hendershot
authors.forename: Richard K
authors.initials: RK
authors.lastname: Kwok
authors.forename: Jane A
authors.initials: JA
authors.lastname: Hammond
authors.forename: Wayne
authors.initials: W
authors.lastname: Huggins
authors.forename: Dean
authors.initials: D
authors.lastname: Jackman
authors.forename: Huaqin
authors.initials: H
authors.lastname: Pan
authors.forename: Destiney S
authors.initials: DS
authors.lastname: Nettles
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.forename: Lindsay A
authors.initials: LA
authors.lastname: Farrer
authors.forename: Peter
authors.initials: P
authors.lastname: Kraft
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Jose M
authors.initials: JM
authors.lastname: Ordovas
authors.forename: Carlos N
authors.initials: CN
authors.lastname: Pato
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Spitz
authors.forename: Diane
authors.initials: D
authors.lastname: Wagener
authors.forename: Michelle
authors.initials: M
authors.lastname: Williams
authors.forename: Heather A
authors.initials: HA
authors.lastname: Junkins
authors.forename: William R
authors.initials: WR
authors.lastname: Harlan
authors.forename: Erin M
authors.initials: EM
authors.lastname: Ramos
authors.forename: Jonathan
authors.initials: J
authors.lastname: Haines
mesh_terms: D019295:Computational Biology / Q000458:organization & administration / Q000592:standards; D015894:Genome, Human; D055106:Genome-Wide Association Study / Q000592:standards; D023281:Genomics / Q000458:organization & administration / Q000592:standards*; D005838:Genotype; D006801:Humans; D033181:Information Dissemination; D020407:Internet; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012015:Reference Standards