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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
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. … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the …
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 … variants to functional variation and phenotype. The Genomic Variation Program supports large-scale studies of …
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 … bank that researchers can use to study how inherited genomic variants - inherited spelling changes in the DNA code …
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.  …
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… Copy Number Variation (CNV) … A copy number variation (CNV) is when the number of copies of a particular … individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) refers to …
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 … Irvine California Institute of Technology Center for Mouse Genomic Variation at Single Cell Resolution HG012077 …
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. …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … new types of variants  within human genomes. Human genomic variation is particularly important because a very …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de … provide new insights into the effects and roles of genetic variation and parental influence on gene activity in mice and … Jeffrey Struewing, M.D., program director, Division of Genomic Medicine, NHGRI; Andrea Beckel-Mitchener, Ph.D., …