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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 …
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 …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… award. CGs should not budget for DNA extraction. What clinical variant types will be screened? Specifically, will … CNVs and structural variants be returned? The type of clinical variants to be screened and returned will be decided … Network-agreed protocols should they be different. Can Clinical Groups (CGs) offer at-home saliva collection kits? …
Event
On Tuesday, February 6, 2024, the National Human Genome Research Institute hosted an eConsult webinar to provide an overview of three notice of funding opportunities (RFA-HG-24-001, PAR-24-106 and PAR-24-107). Questions were answered during the webinar.
… teratogenic exposures have traditionally been the part of genetics services, the national MotherToBaby resource already … Research Grant Applications (Parent SBIR [R43/R44] Clinical Trial Not Allowed) PA-23-232 : PHS 2023-2 Omnibus … Transfer Grant Applications (Parent STTR [R41/R42] Clinical Trial Not Allowed) PA-23-231 : PHS 2023-2 Omnibus …