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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- 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 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.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort P058 Design of the Prospective …
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 … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …
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
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic … islet cell depletion exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large …
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
… Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell … study of neural tube defects allows an unbiased search for genetic contribution. PB2092 Ted Han Genome wide CRISPR … associated with canine body size. PB1092 Yixing Han Common Genetic Variants are Associated with Plasma and Skin …
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.
… Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in … Exhibit Hall 3:00 p.m. — 4:45 p.m. Mendelian Phenotypes Genetic analysis reveals that GNE Myopathy remains an …
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.
… 2 Hilary Vernon, M.D., Ph.D. Associate Professor of Genetic Medicine, Johns Hopkins University 12:30 - 12:50 p.m. …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) will hold its 11th annual meeting online on February 16, 2022.
… Physicians’ knowledge, beliefs, and use of race and human genetic variation: new measures and insights . BMC Health … L, Wilbur WJ, Lu Z, Brody LC, Bonham VL. Evolving use of ancestry, ethnicity, and race in genetics research-A survey …
Event
On March 13-14, 2017, the National Human Genome Research Institute (NHGRI) in partnership with the Foundation for the National Institutes of Health (FNIH) hosted a strategic visioning meeting for a proposed GLEE Initiative.
… Invitae Ron O'Brien Thermo Fisher Scientific James O'Leary Genetic Alliance Francis Onduso Sitting Bull College Chol Pak … Columbia University Rhonda Schonberg National Society of Genetic Counselors (NSGC) Michelle Smith University of Maine … Michelle Snyder NIH/GARD Raman Sood NIH/NHGRI Sarah South Ancestry.com Patricia Spears North Carolina State University …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making … search of lost variants: How EHR integration can improve genetic medicine Presenter: Lisa A. Bastarache, M.S.  … to improve the detection, treatment and reporting of genetic disorders in clinical settings. The objectives of …