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NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Predicting the impact of genetic variants, genes and pathways on human disease HG012009 Predrag Radivojac … and cell types, (2) identify causal mediator genes and pathways underlying disease variation, and (3) decode … we are interested in building novel models and gaining biological insights from pooled or single-cell CRISPR screens …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… and shed light on the role of mitochondria and metabolic pathways in cancer. The results also support the growing …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… Is the goal to capture more genetic variation, and thus biological variation, or more environmental variation, … our understanding of genetic architecture across levels of biological organization? Emerging data from cancer biology, … how it has shaped genetic architecture across levels of biological organization?  It is generally believed that less …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… that is not measured in research often hides underlying biological, environmental or social factors that may … race and ethnicity have been improperly treated as biological or innate characteristics. In society, there are … of potential contributing factors, including genomic, biological or clinical traits; components of the natural, …
The Genomics Landscape
In March 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., honors the recipients of the inaugural Outstanding Award for Enhancing DEIA in the Genomics Workforce - Pardis Sabeti (Harvard University), Bettie Graham (NHGRI) and Ann Mc Cartney (University of California, Santa Cruz) - for exemplifying powerful ways to promote diversity, equity, inclusion and accessibility.
Policies and Guidance
For FY22, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… approaches, and resources that apply broadly to many biological systems and that are generalizable across diseases … comprehensive data, e.g., for genomes, cells, pathways, or populations.  The budgets of new competing …
Policies and Guidance
For FY2023, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… approaches, and resources that apply broadly to many biological systems and that are generalizable across … comprehensive data analyses, e.g., for genomes, cells, pathways, or populations. NHGRI strongly supports projects …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… and quantitative genetics to identify the genes and gene-pathways that drive disease. Newly discovered genes are then … and using the resulting information to refine the genes, pathways, and environmental influences involved in disease …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either … new technologies and linking existing technologies to biological challenges have proven to be fundamental to the … and its focus on technology development with links to biological questions. Suggestions for improving the CEGS …