Search Results
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry will be the focus of … Series in response to the institute's 2011 vision for genomic research. It addresses two aspects of the vision: … but need practical assistance to build competencies to use genomics in the prevention, diagnosis and treatment of …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo​.​ ​
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… 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 …
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 …
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 …
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
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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
…   2024 Year in Review 1. Testing and managing iron overload after genetic … and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results disclosure in diverse … GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 …