The PhenX Toolkit: Get the Most From Your Measures

被引：623

作者：

Hamilton, Carol M. ^{[1
]}

Strader, Lisa C. ^{[1
]}

Pratt, Joseph G. ^{[1
]}

Maiese, Deborah ^{[1
]}

Hendershot, Tabitha ^{[1
]}

Kwok, Richard K. ^{[18
]}

Hammond, Jane A. ^{[1
]}

Huggins, Wayne ^{[1
]}

Jackman, Dean ^{[1
]}

Pan, Huaqin ^{[1
]}

Nettles, Destiney S. ^{[1
,18
]}

Beaty, Terri H. ^{[3
]}

Farrer, Lindsay A. ^{[4
,5
,6
,7
,8
]}

Kraft, Peter ^{[9
]}

Marazita, Mary L. ^{[10
]}

Ordovas, Jose M. ^{[11
]}

Pato, Carlos N. ^{[12
]}

Spitz, Margaret R. ^{[13
]}

Wagener, Diane ^{[14
]}

Williams, Michelle ^{[15
]}

Junkins, Heather A. ^{[2
]}

Harlan, William R. ^{[16
]}

Ramos, Erin M. ^{[2
]}

Haines, Jonathan ^{[17
]}

机构：

[1] RTI Int, Res Triangle Pk, NC 27709 USA

[2] NHGRI, NIH, Bethesda, MD 20892 USA

[3] Johns Hopkins Univ, Dept Epidemiol, Bloomberg Sch Publ Hlth, Baltimore, MD USA

[4] Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA

[5] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

[6] Boston Univ, Sch Med, Dept Ophthalmol, Boston, MA 02118 USA

[7] Boston Univ, Sch Med, Dept Genet & Genom, Boston, MA 02118 USA

[8] Boston Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Boston, MA USA

[9] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[10] Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Dept Oral Biol, Pittsburgh, PA USA

[11] Tufts Univ, Human Nutr Res Ctr Aging, Boston, MA 02111 USA

[12] Univ So Calif, Zilkha Neurogenet Inst, Altadena, CA USA

[13] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[14] RTI Int, San Diego, CA USA

[15] Univ Washington, Sch Publ Hlth & Community Med, Dept Epidemiol, Seattle, WA 98195 USA

[16] NIH, Off Director, Chevy Chase, MD USA

[17] Vanderbilt Univ, Ctr Human Genet Res, Nashville, TN USA

[18] Natl Inst Environm Hlth Sci, Epidemiol Branch, Res Triangle Pk, NC USA

来源：

AMERICAN JOURNAL OF EPIDEMIOLOGY | 2011年 / 174卷 / 03期

关键词：

environmental exposure; epidemiologic methods; genetic research; genetics; genome-wide association study; meta-analysis as topic; phenotype; research design; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; GENETIC-VARIATION; HUMAN-DISEASES; METAANALYSIS; RISK; DATABASE; TRAITS; LOINC;

D O I：

10.1093/aje/kwr193

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

100235 [预防医学];

摘要：

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.

引用

页码：253 / 260

页数：8

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