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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
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… Genetic Disease Research Branch at NIH's National Human Genome Research Institute (NHGRI). "These results may enhance … genes and the innate immune system response. In future studies, the team plans to investigate in more detail the …
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 … word.  … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations …
Educational Resources
Metagenomics is the study of the structure and function of entire nucleotide sequences isolated and analyzed from all the organisms (typically microbes) in a bulk sample.
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically … of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National … , the peer-reviewed journal of The American Heart Association. … Twenty years ago, The New York Times published …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… at interdisciplinary centers through the National Human Genome Research Institute's (NHGRI) Centers of Excellence in … in 2004, is designed to bring together experts in wide-ranging fields - bioethics, law, behavioral and social … . … Impact on Society … Related Content … NIH funds new studies on ethical, legal and social impact of genomic …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… ethical responsibilities, as information about a person's genome sequence is associated with complex issues related to … about how they will use and share the resulting genome-sequence data in the process of gaining such informed … must be educated about the implications of their studies and work closely with ethics researchers. … How do …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study to previous studies involving the African American population, we can … seen most often in people of West African ancestry, other studies have found these variants in people from Europe, …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), who has led an NIH … publishing two papers about their clinical and genomic studies of RUNX1-FPD. "Our study represents the largest … over 100 participants with RUNX1 variants, analyzing their genome, blood, bone marrow and other systems. The …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. … will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by … the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an …