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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. … non-EA individuals during Year 1. … Do the proposed disease-specific genomic risk assessment and management plans … primary purpose for performing the selected genomic risk assessments. Will sites be required to implement all 15 …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare providers are … risk for diseases like Type 2 diabetes, coronary heart disease and breast cancer, which involves calculating a … by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group  and the Polygenic Score Catalog (PGS), …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities. Polygenic risk scores, often … the genomic data of people with and without a particular disease. The National Human Genome Research Institute …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. Although GWAS may find hundreds of variants that appear …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other … integrated with genetic variant information in predicting risk Identify research directions in development and …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Sally Adebamowo*, Michele Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of … Cohorts and Novel Methods to Improve Polygenic Risk Scores Massachusetts General Hospital Amit Khera … Minnesota Iftikhar Kullo*, Daniel Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel Hill …
Staff
Dr. Rene Sterling is a program director in NHGRI's Division of Genomics and Society.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. Dr. Sterling has over … … Rene Sterling, ELSI Research Program, eMERGE Genomic Risk Assessment and Management Network … Dr. Rene Sterling is …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … of genes that have large effects on an individual's risk for developing rare diseases. These same approaches …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as height. How … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions …