Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… in 2022. His interests involve the relationship between genetic variation and phenotypic variation at various scales … individuals and populations. He believes that nothing in genetic epidemiology makes sense except in the light of …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… allele frequency information 1 and association analysis statistics 2 . An allele frequency is the proportion of a … or disease risks.  In genomics, association analysis statistics are the information generated when investigators … or protein expression levels). Examples of these kinds of statistics are: p-values, beta values in regression, odds …
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 …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… on Genomics, Development and Disease within NHGRI's Genetic Disease Research Branch. The PI award that supports … and it looks like that's where most of the diabetes genetic predisposition resides." When Dr. Margulies left …
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 …
The Genomics Landscape
In the November 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the important genomics legacy of the Human Heredity and Health in Africa (H3Africa) program as it comes to an end.
… in genomics and health sciences to understand the genetic and environmental contributions to health and disease … major African health challenges. This includes the use of genetic, clinical, and epidemiologic methods to identify …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach … interpreted. The use of polygenic risk scores (also called genetic scoring and genetic risk scoring) is becoming more widespread both in the …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… have formed a network called KwashNet to conduct the first genetic studies on the development of kwashiorkor. They hope … on the new webpage on genome.gov . …  November 14 was Genetic Counselor Awareness Day, a time to recognize genetic counselors and the vital work they do. For patients …