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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On November 5-9, 2024, 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.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Policy Forum: The Next Frontier of AI/ML in Human Genetics/Genomics Panelist/Speaker, Dave Kaufman 3:00 – 4:15 p.m . … Tools to Improve Clinical Diagnoses and Medical Genetics Education with an Emphasis on Diverse Datasets Platform Talk: Deep Learning for Genomics Education Speaker. Rebekah Waikel 9:10 – 9:30 a.m. …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… lead intramural center’s efforts in driving innovation in genomics research. … The National Human Genome Research … to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs. “For more … complexes in the mouse genome. An interest in comparative genomics first brought him to NIH as a postdoctoral fellow in …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… RNA modifications have gained significant momentum in the genomics community in recent years, with a  new report from …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
News Release
NIH researchers and their colleagues identified multidrug-resistant pathogens on the skin of residents in nursing homes. They found that these potentially dangerous microbes spread widely among residents, indicating a need for improved testing and infection control measures to protect people in nursing homes and other vulnerable populations.
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.