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NHGRI Expands PhenX Project with Standards, Measures Initiative

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute announced that it will fund seven researchers who aim to evaluate and refine standards and tools for using phenotype data in genome-wide association and population studies.

The new grants will provide $1 million to support researchers who evaluating the current standards of the National Institutes of Health-funded Consensus Measures for Phenotype and Exposures (PhenX) Toolkit program. The investigators will incorporate PhenX measures into their ongoing GWAS or large population studies and make recommendations on fine tuning the PhenX Toolkit, said NHGRI.

These grants are part of the newly-launched PhenX Real-world Implementation and Sharing (PhenX RISING) program, and include $900,000 from NHGRI and $100,000 from the National Institutes of Health's Office of Behavioral and Social Sciences Research.

Although GWAS have identified many links between genetic variants and common diseases, most of these studies do not share the same standards for measurement. According to NHGRI, PhenyX standard measures enable researchers to combine data from different studies with overlapping genetic factors or among different diseases, which can improve their abilities to assess disease risks and treatment responses.

"We want to ensure the PhenX measures are of the highest quality so that the research community uses them to expand the scope and value of their studies," Erin Ramos, an epidemiologist in NHGRI's Office of Population Genomics and an NIH project scientist with the PhenX project, said in a statement. "Use of these standard measures will enable researchers involved in large population and Genome-Wide Association Studies to pinpoint the genetic and environmental contributions to diseases faster and with greater accuracy."

The PhenX Toolkit project is led by RTI International through a cooperative agreement with NHGRI.

The new PhenX RISING grants include awards to researchers at the University of Michigan for a study on ecologic stress disorder and drug abuse; the University of California, Los Angeles, for human translational applications; the University of California, San Diego, for a pediatric imaging-genomics data resource study; the Essentia Institute of Rural Health in Duluth, Minn., for a genome-wide study of cataract and low HDL in a personalized medicine project; the University of Oklahoma for genome-wide scanning research into risk genes for type 2 diabetes in Asian Indians; Duke University for studies of self-regulation failure and identifying and modifying a risk phenotype, as well as a study on determinants of health and longevity in China.

"PhenX RISING will promote the use of PhenX measures within the genomics research community and provide us with valuable feedback about the overall usefulness of the Toolkit in real-world research settings," Carol Hamilton, director of Bioinformatics at RTI and the project's principal investigator, said. "For instance, we want to know whether the standard measures can be easily integrated into ongoing studies and how we might improve the resources and tools provided by the PhenX Toolkit."

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