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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… advances of this research to benefit everyone more equally and improve health equity, it is important that the diversity … ethical, legal and social issues including utilization of genomic information, access to genomic services, and how … Genome Research Institute (NHGRI) wants to ensure that all populations benefit from the advances of genomics research, …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data.
… were to: Understand NASEM report recommendations, and consider how they relate to the ongoing use of legacy … with current approaches to harmonization, interoperability and analysis, including genetic similarity; Address … Framework for an Evolving Field , with regards to legacy genomic data. This workshop brought together leaders of …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… will improve scientists' understanding of cell pathways and aid in the development of new therapies for many … The OHSU team will study how both malignant and non-malignant cells are controlled by the microenvironments … internally; and epigenetics, or how cells perpetuate non-genetic information as they grow. These latter signals …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… endeavor to understand the genetic basis of disease in all populations. But this can only be done by including … have shown that African populations contain the oldest and most diverse set of human genes. However, most studies of the human genome have focused on European ancestry populations. By not exploring genetic …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… population or species. A large gene pool has extensive genomic diversity and is better able to withstand environmental challenges. … Inbreeding contributes to a smaller gene pool, making populations or species less able to adapt and survive when …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of … Optimize the integration of large-scale, harmonized genomic and phenotype data. Starting June 2021, the seven …
Educational Resources
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.
… effect, as related to genetics, refers to the reduction in genomic variability that occurs when a small group of … time, the resulting new subpopulation will have genotypes and physical traits resembling the initial small, separated group, and these may be very different from the original larger …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… that use of the term “race” has declined, while “ancestry” and “ethnicity” have increased. … National Institutes of … found that the words that scientists use to describe human populations — such as race, ancestry, and ethnicity — … time. Geographic-based terms like “African,” “Asian” and “European” are also on the rise. “Hispanic” and “Latina/o/x” …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the … and the multifactorial causes of genetic diseases in populations. … Genetic epidemiology is a relatively new …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… (ISCC-PEG) provides a venue for individuals to collaborate and develop educational resources. The opinions expressed in … based upon the understanding of a person’s unique genomic information combined with lifestyle and social, … which includes providing one-on-one care, treating entire populations, teaching the next generation of nurses, or …