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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 … consortium group to identify causal variants, genes, and pathways associated with cardiometabolic disease. Matthias …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… of Crp-Fnr transcription regulators: exploiting the metabolic spectrum by controlling alternative gene programs. … that links unresolved steps in familiar biosynthetic pathways with radical mechanisms: Discovery and functional …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… on complex and difficult-to-control endogenous DNA repair pathways. Collectively, these technologies will usher in a … robust, comprehensive exploration of genes and genetic pathways responsible for human disease in addition to the … disease or brain injury? What specific molecular pathways are disrupted in individual pediatric cancer cases? …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… disease has enabled us to probe the development and common pathways behind diseases," Dr. Lifton said. "These are …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… regulation ( CCND1 ). These genes may play roles in pathways that control cell growth and proliferation, and for …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…  (2014)  Rare kidney tumor provides insights on role of metabolic changes in cancer r  (2014)  TCGA researchers …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… include cell of origin, oncogenic processes and oncogenic pathways. Multiple companion papers report in-depth … investigations on the genomic alterations in the signaling pathways that control cell cycle progression, cell death and …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.