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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
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… in the human genome. These studies provide more accurate information about the genomic variants within 622 medically … Green, M.D., Ph.D., director of NHGRI. “This foundational information will strengthen the many ongoing efforts to … Maryland; and the National Institute of Standards and Technology, Gaithersburg, Maryland. The package of six papers …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
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. …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… in model organisms to give clinicians new, powerful information to help understand the cause of extremely rare … Institute of Neurological Disorders and Stroke. For more information about the UDN application process, visit https://undiagnosed.hms.harvard.edu/apply/ For more information about the UDN program, visit …
Event
On November 18, 2021, NHGRI will host an NIH Genomics and Health Disparities Special Interest Group lecture, "NIH Approach to Inclusive Excellence - The COSWD Viewpoint" by Marie A. Bernard, M.D.
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… and activation of brain areas. However, these studies lack information at the level of genes and how they might …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… of genome function and inform the use of genomic information in medical care.” After nearly two decades of …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.