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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial … researchers have known for more than 20 years that genomic variants in the RUNX1 gene cause the disorder, it is … recently publishing two papers about their clinical and genomic studies of RUNX1-FPD. "Our study represents the …
Profile
In an interview, Boyer reflects on her NHGRI career, the history of the NHGRI ELSI Research Program and the exciting future of research at the interface of ethics and genomics.
… Research Program has therefore become more integrated with genomic medicine and genomics more broadly, and I think that … future sequences needed to be more representative of human genomic diversity and not just a single individual. Another … generated a lot of important ELSI research. There was a genomic variation ELSI research consortium, and that was …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its … a fundamental challenge in genomics: understanding how genomic variants affect genome function in giving rise to … papers and scientific reviews. He has received numerous awards, including the U.S. Presidential Early Career Award …
Office of Communications
A quarterly newsletter from NHGRI's Office of Communications.
… uses a multidisciplinary approach to understanding the genomic code. … Our latest issue … The Forefront of Genomics …
Media Advisory
On April 25, 2023, NHGRI will host a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … tag. To have a fuller understanding of the effects of genomic variation on disease, researchers urge the need to …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… into question current policies on receiving secondary genomic findings. … A study published today by researchers at … individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare … , examines people's attitudes about receiving secondary genomic findings related to treatable or preventable …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… NIH findings may help researchers understand how genomic variation can affect behavioral differences in … owners around the world. The researchers found that the genomic differences among dog breeds are related to the … of their nervous system. For dogs that herd sheep, the genomic differences involve how brain nerve cells, known as …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project … consent to be re-contacted will participate in TGAC.  The Genomic Ascertainment Cohort (TGAC) offers a … from genotype - one of the key underpinnings of predictive genomic medicine." NHGRI will host the database and …