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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… When the researchers compared gene activity due to the genetic contributions from either parent, they found that … , provide new insights into the effects and roles of genetic variation and parental influence on gene activity in … . … Related Content … Researchers grasp wider role for genetic variation in regulatory elements of genome … …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate … the researchers designed questions about 63 different genetic conditions. These included some well-known … cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … presumed, mutations that would almost certainly lead to a genetic condition. … Out of almost 1,000 volunteers whose … that 34 had the specific condition linked to their genetic mutation. These findings indicate that 3 percent or …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … resources around areas of core knowledge including: Basic genetic concepts Ethical, legal and social implications … G2C2 also provides online educational materials for genetic counselors, nurses and physician assistants. … A …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… G2C2 developers have assembled educational materials for genetic counselors, nurses, pharmacists and physicians …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… that these cells are prone to increased numbers of genetic mutations. A new study by scientists at the National … were reprogrammed and in cells that were subcloned. M ost genetic variants detected in the iPSCs and subclones were rare genetic variants inherited from the parent skin cells. This …
Event
Future Webinar Series
… about how to identify and interpret the interplay of genetic and non-genetic factors in trait variation. Following on the heels of NHGRI’s workshop “Advances in the Genetic Architecture of Complex Human Traits” is a seminar …
News Release
The NHGRI-ASHG Genetics and Public Policy Fellowship prepares scientists for careers in science policy.
… (D-NY) office. The portfolios that I'll be working on are genetic policy in a post-GINA world. [GINA stands for Genetic Information Nondiscrimination Act. It was passed in 2008 and prohibits genetic discrimination in employment.] But there are some …
Media Availability
National DNA Day events give the public a chance to ask questions about genetics and genomics.
News Release
On March 16, Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information Nondiscrimination Act of 2008 (GINA), passed away at the age of 88.
… 16, Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information Nondiscrimination Act of 2008 (GINA), … and her work on GINA helped to create protections against genetic discrimination with health insurance and employment. … allow patients and research participants to undergo genetic and genomic testing without fear that their results …