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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 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
NHGRI will host a director's research seminar by Matt Hurles, Director of the Wellcome Trust Sanger Institute on October 30, 2023.
… and leads a research group focused on deciphering the genetic causes of severe developmental disorders, and …
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.