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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Genome (ClinGen) Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA effort  to provide genetic test developers access to consistent, … and Genomics (ACMG). ClinGen has collected information on genetic variants across the genome, developed consensus …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical … Historically Speaking: Next Generation of Black Leaders in Genetic Science … On February 23, 2023, NHGRI and the … Speaking: Next Generation of Black Leaders in Genetic Science." … On February 23, 2023, NHGRI and the …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology … Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with … the field. Less than a decade ago, women seeking prenatal genetic testing, such as for a condition like Down syndrome, … sequencing has allowed a totally new approach for prenatal genetic testing, at least for the initial screening test for …
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… Genomics Heather Zierhut, president, National Society of Genetic Counselors … Wednesday, Dec. 7, 2022, 1:30-2:30 p.m. … of Medical Genetics and Genomics, the National Society of Genetic Counselors, and others. The report concludes that … primary areas of work for employed respondents include genetic counseling, research and academia. Women made up the …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… NIH study finds that failing to account for mixed genetic lineages could lead to inaccuracies. … Researchers … accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome … treated as a genetically homogenous group in large-scale genetic studies, have clear evidence of mixed genetic …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions … Panel discussion: A Historical Discussion on Eugenics and Genetic Testing/Screening Panelists: Rebecca Mueller … relevant to their lived experiences?  How do we discuss genetic and genomic variation and its connections to health …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… groups on helping families prepare for a child with a genetic condition Craig et al. J Community Genet . 2023 Apr …  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved … factors and exposures by working with experts in epidemiology, environmental sciences, and other relevant …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier Screening … Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… methods and approaches that help researchers identify the genetic causes of single-gene diseases. Over 400 million … increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will … research community to tackle challenging diseases whose genetic causes were eluding identification by …