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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
- Genome Technology Program2
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- 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)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in … investigators at the National Institutes of Health (NIH) access to well established, high-throughput DNA sequencing, NISC works closely with NIH collaborators to explore the use and implementation of …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… from the institute and the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top … area of Rockville, Maryland - a few miles from the main NIH campus. This unassuming location houses the Center's … Project , in which genome sequencing was used to study the microbial communities that live in and on our …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… Steven Benowitz … A new study by researchers at the National Human Genome Research … that is typically used to confirm NGS results. The study may have important implications for the DNA sequencing … sequencing and as a result provided an ideal sample set to study. "These data are many times larger than any other …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the … the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH … referred by a clinician, are invited to participate in the study. In general, it takes several months to collect all the …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… database and tissue bank that researchers can use to study how inherited genomic variants - inherited spelling … the availability of funds. The project is funded by the NIH Common Fund, the National Institute of Mental Health … tissues. The awards are supported by the following NIH grants: U01HG007591-01; U01MH104393-01; U01HG007610-01; …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… privacy provisions, the National Institutes of Health (NIH) put forth a new policy which requires that all NIH-funded investigators who conduct sensitive, … be issued Certificates of Confidentiality . Previously, NIH issued these certificates only upon researcher request to …
Event
NHGRI will be holding an ancillary workshop on applying for NIH grants at the 2022 ASHG Annual Meeting in Los Angeles, CA.
… and tricks that will help you successfully navigate the NIH funding system – both from the perspective of NIH Program and Review Officers, as well as early and … researchers who have been successful in obtaining NIH funding. A panel discussion will provide you with the …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… Jeannine Mjoseth … A new mouse study offers insights into why some people's hair goes gray … and chief of the Genetic Disease Research Branch at NIH's National Human Genome Research Institute (NHGRI). … percent to 1 percent of all humans. Researchers at UAB and NIH report that loss of hair pigmentation, or gray hair, is …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… into genomic risk factors for disease in Africa. … The study provides clues to medical conditions in people of … said Dan Kastner, M.D., Ph.D, scientific director of the NIH's National Human Genome Research Institute. "This is an … senior co-author Charles Rotimi, Ph.D., director of the NIH Center for Research on Genomics and Global Health …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
…   The division accomplishes its mission on the main NIH campus in Bethesda, Maryland as well as at other sites, … ; these individuals have tenured positions at NIH. Individuals currently in the tenure-track (but not yet … genomic data; generation of animal models critical to the study of human inherited disorders; and design of novel …