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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… and regulated in different tissues, and the role that genomic variation plays in modulating that expression. … An Atlas of … Heart, Lung, and Blood Institute (NHLBI). "The new studies complement the current GTEx project in assessing …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide association study (GWAS) is an … Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A … (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers across the genomes of many … reference human genome sequence, a map of human genetic variation and a set of new technologies that can quickly and … found that a common form of blindness is associated with variation in the gene for complement factor H, which produces …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… the sequence of DNA among individuals are called genetic variation. Genomic variation explains some of the differences among … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic Variation … Genomic variation refers to diversity in gene frequencies. … Genetic …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence phenotypes. … to the history of genomics and to pursue original research studies, with special emphasis on engagement with diverse and …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… baby might also detect cancer in the mother. … Clinical Studies …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… The Big Picture  Genomic variation reflects the differences in a person’s DNA compared … differences to large differences.  A very small subset of genomic variants contributes to human health and disease.  …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the human genome that are associated with skin color variation in some African populations, opening new avenues … pigmentation, researchers could learn about the underlying genomic alterations that were responsible for difference in … populations, we can identify novel and underappreciated genomic alterations and pathways," said Stacie Loftus, Ph.D. …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Medical Center Multiscale functional characterization of genomic variation in human developmental disorders HG011996 Hyejung … research community  Enabling others to perform related studies using these approaches. … Kristen Brennand, Yale …