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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
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… and Genetics, part of NIH, delivered the lecture on the genetic susceptibility to cancer. … The seventh annual … Trent's research has provided important insights into the genetic basis of cancer. He is the author of more than 350 … patients. Dr. Trent continues to lead studies of the genetic basis of various complex diseases in humans, as well …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
… strong advocate for genomics research, and her work on the Genetic Information Nondiscrimination Act of 2008 (GINA) helped to create protections against genetic discrimination with health insurance and employment. … allow patients and research participants to undergo genetic and genomic testing without fear that their results …
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.
… is not selected for funding.  Can consultants order genetic tests for the patient? No. In an eConsult, the … own patient. If the consultant is needed to order the genetic test, this would be a referral.  Can some eConsults … to, address.  Can the service use non-physicians, such as genetic counselors, PharmDs, nurses, or PhDs to respond to …
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.
… expected to do data cleaning that links clinical data with genetic data? Yes, in collaboration with the CGs and SeqC. … assigned to the CGs for the clinical data and SeqC for the genetic data. The CC will be responsible for linking the clinical data with the genetic data.  Will statistical resources be available …
FAQ
Questions and answers to help applicants responding to the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding opportunities (NOFOs): RFA-HG-24-004 and RFA-HG-24-005.
… enhance the prediction of how individuals with pathogenic genetic variants manifest disease—the goal of this NOFO—but …