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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
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- 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
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… 25, that highlighted relevant and interesting topics in genomics and concluded with the annual Louise M. Slaughter … methodologies, benefits, and challenges in the use of population descriptors such as race, ethnicity, and ancestry … of recommendations that provide a framework for using such population descriptors in future genetics and genomics …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… … In the first study of its kind, an international team of genomics researchers has identified new regions of the human …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… explore initial findings in non-European populations. The Population Architecture using Genomics and Epidemiology (PAGE) Consortium ( RFA HG-07-014 … PAGE is defining the epidemiological architecture of cross-population allele frequencies, relative risks, and …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… Genomics research is shaping the future of medicine. For … of the study participants reflect the diversity of the population. It is also necessary to understand ethical, legal … Program Educational Materials About Genetics and Genomics Population Architecture using Genomics and Epidemiology …
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. 
… legacy data;  Summarize current approaches to the use of population descriptors in/for legacy data;   Define … Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field , …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… to correct this misunderstanding," said Dr. De Vries. "Genomics research is very new on parts of the continent and … it's often difficult to describe concepts like genes and genomics in local languages," said Paulina Tindana, Ph.D., an … appropriate superheroes to help local youth understand genomics. Despite these challenges, there is no lack of …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene pool refers to the combination … all the genes (including alleles) present in a reproducing population or species. A large gene pool has extensive …
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.
… cross-WG collaboration when additional input is needed. Population Descriptors, Social and Ethical Implications … Wojcik, Braxton Mitchell, and Iain Konigsberg Scope: The Population Descriptors, Social and Ethical Implications … and WGs on social and ethical implications as well as population descriptor considerations in PRIMED projects and …
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.
… variation that results when a small subset of a large population is used to establish a new colony. … Genetic Variation, Population Genetics, Human Migration, Genes … A founder … small group of individuals becomes separated from a larger population. Over time, the resulting new subpopulation will …
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.
… and their timing, along with new descriptors for certain population groups, may be linked to structural racism, social … . For the field of genetics, the question of what makes a population is a fundamental one. Accurately describing human … categories as biological units. Now, in the field of genomics, ancestry, ethnicity and race are used as inexact …