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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
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… who design studies need to think about the underlying genetic basis of a disease. "Will it be driven by common or … M.D., Ph.D., director of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University in Baltimore, … context in which they occur, meaning the presence of other genetic variants and the genetic and environmental background …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… to review and update protocols. … The toolkit uses statistics  demonstrate uptake by the scientific community. …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… Smith earned Bachelor of Science degrees in zoology and statistics from the University of Georgia, and his Doctor of … of Genomic Diversity. His research focused on human genetic analysis and disease gene discovery including …
Research Funding
The Scientific Review Branch manages the initial peer review process for grant proposals assigned to the National Human Genome Research Institute.
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News Release
NIH released a Request for Information seeking comments on the data submission and access process for dbGaP.
… Browser to enable viewing of controlled-access summary statistics and individual-level genotype and sequence data … to highlight current dbGaP data submission and access statistics, including DAR processing times and data …
Staff
Dr. Victoriya Volkova is a scientific review officer in the NHGRI Scientific Review Branch.
… She managed three CSR study sections: Analytics and Statistics for Population Research panels A and B, and …
News Release
As director, Erin Ramos will lead the institute’s extramural programs in basic genomics research.
… with Dr. Nina Fedoroff and discovered her interests in statistics, genetic analyses and population-level health. Blending her … of Washington. While a graduate student, she studied the genetic epidemiology of Alzheimer’s disease and …
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.
… builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published … smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.