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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
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… The Human Genome Project (HGP) is one of the greatest scientific feats … to comprehensively study all of the DNA (known as a genome) of a select set of organisms. Launched in October 1990 and completed in April 2003, the Human Genome Project’s signature accomplishment – generating …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… disease in T-cells. T-cells play important roles in human immune response. The mutations resulted in an increased … M.D., senior author and investigator at the National Human Genome Research Institute. Related Resources Cytochrome …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … the United Kingdom, China, Germany and Canada. In two studies published online on Sept. 30, 2015, in Nature , …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long … updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code  exhibition is currently … from the institute and the field of genomics. …  Research studies that generate genome-sequence data rely on a …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … 3 billion DNA base pairs, or letters, that make up the human genome. With its four-letter language, DNA contains the … that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… Benowitz … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional … more accurate than newer methods." In addition, several studies in recent years have suggested that NGS can identify …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … machinery, and those mutations can lead to cancer. The Human Genome Project has allowed us to establish what "normal" usually looks like for a human genome, so that we can now tell when changes in our …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… new participants at this time. For other COVID-19 related studies at the National Institutes of Health, visit: … trainees, and guest researchers may join in NIH studies if they wish to do so. You should not feel compelled … Policy for NIH Employees Participating in Medical Research Studies … Who can join? … What is involved? … For NIH …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
…  All the best,   … When pursuing clinical genomic studies, it is important to be transparent with both research … significance of their results.   …  In 2003, the Human Genome Project ended with the generation of an essentially …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Shawn Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the …