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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- 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
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… The objectives of the meeting were to: Define currently … in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to … of host genomic information in clinical care of infectious diseases … Meeting Objectives … On December 12-13, 2024, the …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… countries address their public health challenges in genetic diseases. This will ultimately help build healthier nations worldwide. … The National Institutes of Health (NIH)  is the premier biomedical-research …
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.
… Co-moderator R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked … 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us …  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Click on the hyperlinked presentation titles to view their respective … Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, … 2 Hilary Vernon, M.D., Ph.D. Associate Professor of Genetic Medicine, Johns Hopkins University 12:30 - 12:50 p.m. …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… The National Human Genome Research Institute (NHGRI) hosted the Knockout Mouse Phenotyping Program (KOMP2) and … Mouse Phenotyping Consortium (IMPC)'s annual meeting at the Rockville Hilton in Rockville, Maryland, on October 2, …
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
… 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of Us 1086W Amy Bentley G6PD deficiency masks the diagnosis of abnormal glucose tolerance: insight from the … Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in …
Event
On November 1-5, 2023, 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
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … . Susan Perksy Clustering of heritability beliefs across diseases, traits, and individuals. PB2362 Michael Chambers … Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell …
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.
… Fundamental/ Translational Multi-omics insights into the biological mechanisms underlying gene-by-smoking and … 4:45 p.m. Reviewer's Choice/ Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
…  View recorded videos in the YouTube playlist … Video Recordings … Contact … … is co-sponsored by institutes at the National Institutes of Health (National Human Genome Research Institute, National … National Institute of Diabetes and Digestive and Kidney Diseases and the National Institute on Minority Health and …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
… The Encyclopedia of DNA Elements (ENCODE) held a workshop as an ancillary event to the American Society of Human Genetics (ASHG) annual meeting on October 16, …