Search Results
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.  Return of Genetic Results: … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease … 6503 participants: challenges of variant classification. Genome Res , 2015. [In Press]  Lewis KL, Han PK, Hooker GW, …
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 … Mitochondrial disease, human immune response, Peter McGuire M.D. …
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 … at 12 p.m. ET, a poster session at the American Society of Human Genetics (ASHG) Annual Meeting held Oct. 15-19, 2019, a … The Genome: Unlocking Life's Code  exhibition is currently …
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 …
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 , … Scientists create world's largest catalog of human genomic variation …
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 …
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 … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … 3 billion DNA base pairs, or letters, that make up the human genome. With its four-letter language, DNA contains the …
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.
… When pursuing clinical genomic studies, it is important to be transparent with both research …  In 2003, the Human Genome Project ended with the generation of an essentially … the full range of global genomic diversity, such as the studies being performed by NHGRI’s Human Genome Reference …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings … more accurate than newer methods." In addition, several studies in recent years have suggested that NGS can identify …
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 … had to look at the enhancer sequences within the zebrafish genome.  If transcription factors are thought of as the keys … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the …