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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. … bank that researchers can use to study how inherited genomic variants - inherited spelling changes in the DNA code … complement the current GTEx project in assessing genomic variation and gene expression," explained Simona Volpi, …
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 … The Genomic Variation Program supports research aimed at: …
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 … strategies to detect, treat and prevent the disease. Such studies are particularly useful in finding genetic variations … reference human genome sequence, a map of human genetic variation and a set of new technologies that can quickly and …
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) … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Genomic Variation … Genomic variation refers to diversity in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn … Genomic variation refers to DNA sequence differences among … Genomic variation refers to diversity in gene frequencies. …
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 … recently announced that nine institutions will be awarded Genomic Innovator Awards to support the research of 12 early …
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.  … The long-term goal is to have sufficient knowledge about genomic variation in all human populations, bringing equity …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… Clinical Studies …
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 … One of the central problems in biology is understanding how genomic variation affects genome function to influence …
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 … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) refers to a circumstance in which … A copy number variation (CNV) is when the number of copies of a particular …