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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
Event
On October 20, 2022, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", a program that explores the experiences of renowned African American biomedical researchers and physicians.
… The researchers will discuss why they chose a career in medicine, recount their experiences with mentors, discuss … overcame in their careers, and share how they promote more diversity in their fields. All times are Eastern Time (ET). … Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences … On October 20, 2022, NHGRI …
Office of Genomic Data Science
NHGRI is committed to increase the availability of educational and research opportunities in computational genomics and data science (CGDS).
… the availability of educational and research opportunities in computational genomics and data science (CGDS). Through recent funding … Expired RFA-HG-22-002 : Educational Hub for Enhancing Diversity in Computational Genomics and Data Science (U24 …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo.
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … … Preguntas Frecuentes … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… of genomic variants associated with blood lipid levels. … In a large-scale study of people from diverse ancestries, … risk for such diseases.” Since the field’s inception, the genomics community has performed over 6,000 studies looking … Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . …
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.
… Southern California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve … (PRIMED) Consortium … Polygenic Risk Score (PRS) Diversity Consortium will work together to develop and …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their findings in the September 2017 issue of the American Journal of … Syndrome is relatively common -- affecting between 1 in 1,000 to 1 in 2,500 children -- few studies have been …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Gene Pool … A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene … combination of all the genes (including alleles) present in a reproducing population or species. A large gene pool has …
Talking Glossary
La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN específica en un cromosoma.
… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para … de ADN específica en un cromosoma. … Fluorescence in situ hybridization (abbreviated FISH) is a laboratory …
Diversity, Equity, Inclusion and Accessibility (DEIA)
The annual Bettie J. Graham Leadership Award for Enhancing Diversity, Equity, Inclusion, and Accessibility in the Genomics Workforce was developed to honor investigators who have made a significant influence on enhancing DEIA in the genomics workforce.
… The annual Bettie J. Graham Leadership Award for Enhancing Diversity, Equity, Inclusion, and Accessibility in the Genomics Workforce was developed to honor investigators who …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… backgrounds with sickle cell trait. The study, published in Blood Advances , was led by researchers at National Human … as Black or African American. While sickle cell trait in the United States is most prevalent in individuals who self-identify as Black or African …