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- Genetic Architecture of Complex Traits1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… genetic changes, known as variants, are distributed among populations and how they lead to increased risk. Functional …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… to study health and disease in ancestrally diverse populations. … While single ‘omic analyses have produced … and standards that can be generalized across diseases and populations. It will also generate a standardized and … to study health and disease in ancestrally diverse populations. By leveraging disease contexts where multi-omic …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… for a DNA sequence found in different frequencies between populations from different geographical regions. … Ancestry, … that appear in substantially different frequencies between populations from different geographical regions of the world. … for a DNA sequence found in different frequencies between populations from different geographical regions. … …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… Coordinating Center (CC) involving diverse settings and populations to conduct pragmatic clinical trials of genomic … through pragmatic trials in diverse and underserved populations across Indiana Todd Skaar, Ph.D., Indiana … Implementation Research in the Diverse Settings and Populations of New York City Carol Horowitz, M.D., M.P.H., …
Diversity Center
The Morehouse School of Medicine established the Center of Genomic Diversity that aims to create a transformative impact on genomics research and health outcomes in minority populations, fostering an inclusive and equitable research environment.
… particularly in addressing health disparities in minority populations. Specifically, the program focuses on first … on genomics research and health outcomes in minority populations, fostering an inclusive and equitable research … and supportive environments for under-represented (UR) populations in genetics and genomics by fostering …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… a population. Though it primarily affects small, isolated populations, the effects of genetic drift can be strong, …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… not reflect the value of PRS. Careful evaluation of the populations of reference that gave rise to the PRSs used in a … history of the harms that have been incurred by high-risk populations who bear the burden of disease in this country. … individuals, include misrepresenting or misclassifying populations, or de-emphasizing differences across people when …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… often can't pinpoint the disease, especially in diverse populations. The goal of the study, published March 23, 2017, … Indian subcontinent, the Middle East, South America and sub-Saharan Africa. In addition to the photos, the atlas will …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… captures substantially more diversity from different human populations than what was previously available. The work was … to improve the catalog of genomic variants in diverse populations. Because the human pangenome reference is a work … captures substantially more diversity from different human populations than what was previously available. … Researchers …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… There is an expanding effort to include Indigenous populations like Alaska Native people in genomic analyses to … of unethical research that has caused Alaska Native populations to be wary of sharing their genetic data with … their privacy being breached, especially given their small populations and link to a specific geographic area. Within …