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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
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations …
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.
… … A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … Research Network. Previous research established that genomic variants in APOL1 increase the risk of developing …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… Steven Benowitz … An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with … of studies of human biology and medicine, providing the basis for a new understanding of how inherited differences in …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… Faherty, Ph.D. … New grants from the National Institutes of Health (NIH) will fund researchers to develop … which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … predictions about which variants in non-protein-coding genomic regions affect disease susceptibility and response to …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' … researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through multiple funding … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Mjoseth … Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Mjoseth … Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, … or access to a treatment in development. … A wide range of genomic research studies need participants, each with … and health insurers from discriminating you on the basis of your genetic information. Another Federal law called …