Search Results
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… Asked Questions Data sharing is an important aspect of the research endeavor that ensures maximal use of participants’ data for scientific discovery, rigor and … share both metadata and phenotypic data sharing along with genomic datasets that are required to be shared, in …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… The primary mission of the Alliance of Genome Resources (Alliance), Model … genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists … funded by NHGRI or other NIH Institutes takes place in the petri dish and in nonhuman organisms such as mice or … test new therapies. In the clinic, there are proposals to use genome editing as a treatment for disease. Many diseases …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
… The Encyclopedia of DNA Elements (ENCODE) held a workshop as an ancillary event to the American Society of Human Genetics (ASHG) annual meeting on October 16, … workshop on the accessibility & utilization of ENCODE data. The workshop included an introduction to the ENCODE …
Event
On May 19-20, 2016, the National Human Genome Research Institute (NHGRI) hosted a two-day workshop where participants were asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users.
… Workshop Report  Roster of Participants … NIH Background Fact Sheet on GWAS Policy … Update Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects Report Resolving … asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users. … NISC, 5th Floor …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… As set out in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers of regulatory elements, in different cell fates or cell states. They use the gene expression and functional element data to …
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
… an approach that oversimplifies the complex interplay of ancestry, health, disease and drug response. … In a May 26 … best medication for a patient. It doesn't mean that the use of race in medical care will entirely go away, but its … and the systems in which they work must be trained to use genomic, environmental, lifestyle and social data to guide …
Staff
​Chris Wellington is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science.
… is a program director for Computational Genomics and Data Science in the NHGRI Office of Genomic Data Science. His primary focus is in the Genome …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… … Scientists and healthcare providers are beginning to use a new approach for assessing a person's inherited risk … a polygenic risk score . The score provides an estimate of an individual’s risk for specific diseases, based on their … for ClinGen, deputy director of the NHGRI Division of Genomic Medicine and co-author of the paper. "With the field …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… Eric Green, M.D., Ph.D. … I had the pleasure of giving the opening talk at the fourth annual International … at 12 p.m. ET, respectively. These workshops will focus on data science challenges facing the genomics research … a single actual human or a representation of human genomic variation. A reference sequence provides researchers …