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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 February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… of Alabama at Birmingham Heersink School of Medicine  Our Genetic Testing Service is in the design phase, and we hope … UAB physician can use to ask for assistance in ordering genetic testing. The initial contact will be a Genetic Counseling Assistant (GCA). If the request is more …
Event
On June 26, 2024, NHGRI hosted an application webinar for the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding opportunities (NOFOs) (to be published).
… precision of predicting how individuals with pathogenic genetic variants manifest disease. The objective is to … disease development in individuals carrying pathogenic genetic variants within a research consortium, ML/AI Tools to …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
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 …
Event
The 2021 - 2023 Class of ISCC-PEG Scholars provided virtual presentations of the genomics education projects in which they were involved during their two years of participation in the program. Their ISCC-PEG Mentors provided introductions.
… C, Wild KT, Feudtner C. Hospital-level variation in genetic testing in children's hospitals' neonatal intensive …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… other information sources that should be integrated with genetic variant information in predicting risk Identify …
Event
On April 25, 2023, NHGRI hosted a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
FAQ
Frequently asked questions related to the Informational Session on the Renewed ELSI Funding Opportunities: R01 (PAR-23-293), R21 (PAR-23-294), and R03 (PAR-23-295).
… can include key features of the data set, descriptive statistics for variables of interest, discussion of data …
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 …