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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive … variants for use in precision medicine. The National Human Genome Research Institute (NHGRI) will provide the majority … and report genomic variant information and guidelines for studies that evaluate polygenic risk scores. Researchers have …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… consortium, initiated and funded by NIH’s National Human Genome Research Institute (NHGRI). NHGRI will fund 25 awards … will work to understand how genomic variation alters human genome function, and how such variation influences human … a catalog of the results and approaches used in their studies. All information generated by the consortium will be …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or … Ph.D. , program director for GTEx at the National Human Genome Research Institute (NHGRI), who oversaw various parts … samples, as well as extracted DNA and RNA for future studies by independent researchers. The summary-level data …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a … genomic variation to human health. The National Human Genome Research Institute (NHGRI) established ClinGen in 2013 … American College of Medical Genetics and Genomics and the Association for Molecular Pathology to identify those …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… the the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI).  She joined the division … of the Division of Genomic Medicine at the National Human Genome Research Institute. … Simona Volpi, common diseases, … of the Division of Genomic Medicine at the National Human Genome Research Institute. ​ … Staff …
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.
… are tools for assessing many genomic variants across the genome to determine a person’s risk for disease. As the use … people of European ancestry. “Recently, more and more studies incorporate multi-ancestry genomic data into the … existing health disparities. Recently, more and more studies incorporate multi-ancestry genomic data into the …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… In addition, NIH announced six UDN grants that will fund studies of the function of genes thought to play roles in … provide sequencing of the protein-coding portion of the genome, or exome. The clinical sequencing results will meet … Sequencing Core. The facility will provide CLIA-certified genome sequence data for UDN patients and their family …
Policies and Guidance
For FY2024, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… approaches, technologies that accelerate and support studies focused on the structure and biology of genomes, as … codes: R03, R15, R21, UE5, UG3. Consistent with NIH-wide policies, no inflationary increases will be allowed for … and Data Science ( RFA-HG-22-002 ) Diversity Centers for Genome Research ( RFA-HG-22-026  and RFA-HG-22-027 ); …
Media Advisory
With the publication of 16 high-quality reference genomes from across vertebrates, the Vertebrate Genome Project establishes standards for biodiversity genomics and reports discoveries in comparative biology, conservation, and health research
… Prabarna Ganguly, Ph.D. … These genome assemblies can help researchers learn more about … disease. … The Vertebrate Genomes Project , part of the Genome 10K  Community of Scientists, today announced their … Institute (NHGRI) led the informatics component of the studies. The team organized and assembled sequencing data …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program … specifications for common controls for rare variant association studies … Coordinating Center The GSP Coordinating Center …