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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
News Release
Supporting early career investigators at the cutting edge of genomics.
… on identifying genomic variants that exist in specific ancestry populations. His work aims to classify small …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Dr. Li is a genetic epidemiologist and the program director for the … has a longstanding interest in public health, especially genetic and genomic research on complex diseases and … for the Health, Aging and Body Composition Study. European ancestry and resting metabolic rate in older African …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… on behalf of GTEx. Until now, no project has analyzed genetic variation and expression in as many tissues in such a …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Clinical sequencing across communities in the Deep South Genetic disorders in newborns Kaiser Foundation Research … indications for colorectal cancer/polyposis (CRCP) genetic testing University of Washington, Seattle Gail Jarvik … to demographics and socioeconomic status (other than ancestry) with input from the ELSI/diversity WG; and a …
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 …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… used. Will PRS be developed and validated for non-European Ancestry (EA) individuals in Year 1? Yes, applicants should … by the Steering Committee. If patients have already had genetic testing, can they still be included in the … within the context of this RFA? Secondary findings are genetic test results that are not part of the primary purpose …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… a disease or condition. Pharmacogenomics How a person’s genetic variation affects how they respond to medications. … vitro technologies or model organisms. Sequencing Use of genetic sequencing for patients’ medical care. Variant Classification How a genetic alteration influences an individual's susceptibility …
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.
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… about the prospects, fears, controversy and boundaries of genetic engineering. The subject of my term paper together … group developed new technologies and techniques for human genetic studies. We worked on developing methods for mapping …