PhenX: a Toolkit for Interdisciplinary Genetics Research

Overview

Journal Curr Opin Lipidol

Specialty Biochemistry

Date 2010 Feb 16

PMID 20154612

Citations 54

Authors

Patrick J Stover

William R Harlan

Jane A Hammond

Tabitha Hendershot

Carol M Hamilton

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: To highlight standard PhenX (consensus measures for Phenotypes and eXposures) measures for nutrition, dietary supplements, and cardiovascular disease research and to demonstrate how these and other PhenX measures can be used to further interdisciplinary genetics research.

Recent Findings: PhenX addresses the need for standard measures in large-scale genomic research studies by providing investigators with high-priority, well established, low-burden measurement protocols in a web-based toolkit (https://www.phenxtoolkit.org). Cardiovascular and Nutrition and Dietary Supplements are just 2 of 21 research domains and accompanying measures included in the PhenX Toolkit.

Summary: Genome-wide association studies (GWAS) provide promise for the identification of genomic markers associated with different disease phenotypes, but require replication to validate results. Cross-study comparisons typically increase statistical power and are required to understand the roles of comorbid conditions and environmental factors in the progression of disease. However, the lack of comparable phenotypic, environmental, and risk factor data forces investigators to infer and to compare metadata rather than directly combining data from different studies. PhenX measures provide a common currency for collecting data, thereby greatly facilitating cross-study analysis and increasing statistical power for identification of associations between genotypes, phenotypes, and exposures.

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