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News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… and are usually only available through controlled-access pathways. The privacy risks for individual-level data are … would be shared through open access (unrestricted) pathways. This means that controlled-access NIH-designated …
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? …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… between the two genetic types, particularly in signaling pathways that promote tumor development and growth. The …
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 …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …
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 …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… to kidney failure. MMA patients also suffer from severe metabolic instability, failure to thrive, intellectual and …