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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
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- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… gold standard for validating DNA sequencing results, technology that allows researchers to sequence DNA quickly … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … to carry out this research; and the dissemination of information on research progress in these diseases. For more …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… is to build infrastructure and approaches with today's technology, with a vision that this will evolve toward … Center Genomics Opportunity) Application Background Information for the Application Please forward all … Center Wendy Rubinstein, National Center for Biotechnology Information (NHGRI Adjunct Investigator) … Overview … …
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. …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… University investigating how the human brain represents information. More specifically, they looked for semantic information in the brain while subjects perform several … the interaction among brain regions processing sensory information related to visually guided movement, but also to …
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.