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Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… of phenome‐wide association studies (PheWAS), phenotype risk scores (PheRS), work he is continuing here at NHGRI. He has … colocalization analyses, pharmacogenomic investigations, polygenic risk scores (PRS), phenotype risk scores (PheRS), …
File
… PowerPoint: Development of Polygenic Risk Scores …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown prostate … with Type 2 Diabetes in Han Chinese. (Complex Traits and Polygenic Disorders) 1816W. David R. Adams: The NIH … West Africans and African Americans. (Complex Traits and Polygenic Disorders) 775F. Cristina M. Justice: Targeted …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… GSR can be included in analytical models. For instance, Polygenic Risk Score (PRS) models include scoring files that contain … value of GSR and the fact that there would be minimal risk to most participants if GSR were to be moved from …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… dialogues about current themes and issues in genomics. The polygenic risk score fact sheet describes how information about genomic … person’s risk for certain human diseases and how such risk scores may be used in medicine. During the COVID-19 pandemic, …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… information and guidelines for studies that evaluate polygenic risk scores. Researchers have used these ClinGen resources to …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2024.
… Lewis et al. – “Managing Differential Performance of Polygenic Risk Scores Across Groups: Real-world Experience of the eMERGE …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2022.
… Using HCR-FlowFISH Nasser - Genome-Wide Enhancer Maps Link Risk Variants to Disease Genes Zhang - A Single-Cell Atlas of … Network eMERGE Network Website eMERGE Resources Kullo - Polygenic Risk Scores for Diverse Ancestries: Making Genomic Medicine …
News Release
Supporting early career investigators at the cutting edge of genomics.
… NIH grant programs with a similar purpose include the High Risk, High Reward Research program funded by the NIH Common … School, Boston, aims to develop and validate clinical polygenic risk scores for six common diseases: coronary artery disease, …