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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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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 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.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in …
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.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: … Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical culture that …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… of Pennsylvania 12:00 PM - Lunch 1:00 PM – Session 3: Genetics, it’s Complicated Moderator: Jennifer Troyer, NHGRI …
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.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) … lag for inclusion of genetics and genomics in research and clinical practice. Integrate accurate genetic and genomic information, and its related technologies in clinical practice, for the diagnosis, treatment and …
Event
On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics community convened for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC).
… Resources … On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics … necessary to keep the reference relevant and useful clinical and research community needs (including education) … Web Meeting … On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics …
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.
… of Us identify thousands of associations of proteins and clinical phenotypes 1135W Ariel Williams SGLT2 Inhibitors … PheWAS analysis with PheTK 4043F Nephi Walton Defining a Clinical Data Ecosystem for Genomic Health 1120F … ASHG 2024 … ASHG Policy Forum: The Next Frontier of AI/ML in Human Genetics/Genomics Panelist/Speaker, Dave Kaufman 3:00 – 4:15 …
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.
… PB5035 Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All of Us” … HPS-1 pulmonary fibrosis PB2027 Zo Bly The landscape of clinical sequencing in diverse populations: lessons learned …
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.
… Hall 3:00 p.m. — 4:45 p.m. Evolutionary and Population Genetics Newfoundland and Labrador: A mosaic founder … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Local Ancestry at the MHC … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Developing an African …
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.
… Session 1 Moderator: Irini Manoli, M.D., Ph.D. Clinical Associate Investigator, NHGRI 10:05 - 10:30 a.m. … M.D., Ph.D. Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of Pediatrics, CNMC 3:00 - 3:20 … p.m. Enzyme Therapy for Homocystinuria: Research & Pre-clinical Development of PEG-CBS (OT-58, TVT-058) Tomas …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… RFA-HG-20-007 : Mendelian Genomics Research Centers (U01 - Clinical Trial Optional) RFA-HG-20-008: Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed) … Overview … Events … Funding … … Program Analysts … Genomics Research to Elucidate the Genetics of Rare Diseases … The GREGoR Consortium is aimed at …