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The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… Polygenic scoring accuracy varies across the genetic ancestry … the case that variants in many genes contribute to the risk of developing traits and diseases. Scientists and clinicians use tools called polygenic scores to calculate such a risk by combining information …
Research Funding
The EMERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.
… and Missions Working Group Co-Chairs Goals Comprehensive Risk Assessment and Return Gail Jarvik, Iftikhar Kullo, and … of validated PRS into GRA Return & management of risk recommendations EHR Workflow & Infrastructure Robert … PRS data integration Security analysis/risk Phenotyping Wei-Qi Wei and Chunhua Weng Capture data …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… differences in people’s blood pressure. Knowing a person's risk for developing hypertension could lead to tailored … these analyses, the researchers were able to calculate a polygenic risk score, which combines the effects of all … blood pressure and risk for hypertension. These risk scores consider which genomic variants confer risk for …
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.
… are related to different traits helps researchers estimate polygenic risk scores and may give clues about a person’s ability to respond …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… to terminate pregnancies where the fetus is at heightened risk for genetic disorders, such as Down Syndrome and spina … bifida. The emergence of statistical techniques, such as polygenic risk scores, that can estimate risks for more genetically complex …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… significance alone, but together they increase the genetic risk for certain symptoms of the disorder. The more ADHD … Adding them all up can provide you with a 'genetic risk score' (called the polygenic risk score) that can predict the chances of having …
File
… PowerPoint: Development of Polygenic Risk Scores …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… Project Title: Preparing providers to integrate polygenic risk scores into clinical care Lead Investigator for Project: …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… The meeting, entitled Genomic Medicine XII: Genomics and Risk Prediction , assessed the biomedical landscape related to polygenic risk scores and how it may be improved. It also aimed to identify … Medicine XII Meeting: Research Directions in Genomic Risk Prediction …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… these metabolic changes can impact physical traits such as risk of disease or drug toxicity. In this paper (Surendren et … genomic disorders and learn how to communicate genomic risk. For example, Benjamin Solomon, M.D. , and his … ML is being used for improving the methods for calculating polygenic risk scores , which reflect an individual's genetic …