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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… Study shows genomic information can unknowingly influence medical … common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. … risk reports will be applied in the healthcare system and understand whether introducing this information will …
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 … Optimize the integration of large-scale, harmonized genomic and phenotype data.  Starting June 2021, the seven … experts and other translationally focused consortia (e.g. eMERGE, ClinGen) to produce a set of recommendations on …
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… The Genomics and Health Disparities Interest Group provides a forum to … networking and community engagement. … As the pace of genomic research accelerates , understanding the role of genomics in disease risk and its integration into clinical care is increasingly …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… from the UDN turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit … missed days of work, hospital stays, lab tests, and the risk of injury from hunting for a disease. Also, what are … peer-reviewed information on differentials and management would be GeneReviews ( …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and … Research Network. Previous research established that genomic variants in APOL1 increase the risk of developing …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from contributing to health disparities, a … NIH’s Electronic Medical Health Records and Genomics (eMERGE) Network will continue this research by enrolling a …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… have a gene variant associated sickle cell trait (SCT) and most never have related health complications. Researchers … conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary … genes with environmental exposures that may increase risk for some individuals." Hematologists and sickle cell …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… will oversee the research training, fellowship and residency programs at the institute. … The National Human … areas of genomics — including clinical care and patient management, bioinformatics and emerging technologies — should … M.D., M.D./Ph.D. and D.O. include: Medical Genetics and Genomic Medicine Residency Program  Maternal Fetal Medicine …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… addition to meeting with numerous researchers, students, and government leaders, I gave four talks – specifically, at … research collaborations to tackle major challenges in genomic and precision medicine. It will be important to have … Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …