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- 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
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish … protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their … sites specifically focused on better understanding disease risk and susceptibility by combining genomic and …
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
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from … The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people … chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a …
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… Polygenic Risk Score (PRS) … A polygenic risk score (abbreviated PRS) uses genomic information alone … developing a particular medical condition. … A polygenic risk score (abbreviated PRS) uses genomic information alone …
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 …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… in diseases across different populations. A “ polygenic risk score ” is one way by which people can learn about their risk of developing a disease, based on the total number of changes related to the … their physicians and genetic counselors for further health assessments. … The majority of genomic studies to date have …
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
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… shows 70% of people who use the workbook discuss their disease risks and health history with family members. … … have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since …
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 …