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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… is nearly 20 years old and has been regularly updated as technology advances and researchers fix errors and discover … human genome sequence has gaps that reflect missing information, especially in areas that were repetitive and … the human pangenome reference, improve DNA sequencing technology, operate a coordinating center, conduct outreach …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… To test the large language models’ efficacy with information from real patients, the researchers asked … conditions. The models may therefore not have sufficient information about these conditions to make diagnoses. …
Statement
NHGRI Director, Eric Green, M.D, Ph.D., provides remarks for the March 31, 2022 media briefing about the series of publications reporting the first complete, gapless sequence of a human genome.
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… and antidepressant prescriptions. In pharmacogenomics, information about a patient’s genetic makeup helps determine … respond to certain drug treatments. In pharmacogenomics, information about a patient’s genetic makeup helps determine … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and …
News Release
Researchers at the National Institutes of Health (NIH) question advertisements by direct-to-consumer genetic ancestry kits that claim to know what it really means to be American Indian.
… overlapping research interest on the interplay of ethics, technology, and scientific knowledge. Their latest research … purchase the kits to learn more. The kit provides ancestry information and estimates their ethnicity using DNA found in … none of the companies disclosed how they evaluate genetic information in DNA to determine ancestry. Walajahi said the …
Fact Sheet
Understanding gene therapy for sickle cell disease
… and biomedical research communities. They include helpful information and resources for people with sickle cell disease …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… called UNITE . I encourage you to respond to a Request for Information (RFI) inviting feedback on the approaches NIH can … Small business initiatives for innovative diagnostic technology for improving outcomes for maternal health NHGRI …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… both institutions contributed scientific and historical information to the exhibition. Over 3 million visitors viewed … expected to start in summer or fall of 2022. For further information about the fellowship or details about how to … dialogue about how innovations in genomics research and technology can affect health disparities. The lecture series …