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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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.
… Founder Effect … 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. … Genetic Variation, Population Genetics, Human Migration, …
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.
… central challenges in biology is understanding how genomic variation affects genome function to influence phenotypes. … Branch in NHGRI’s Intramural Research Program. He is a genetic epidemiologist who conducts innovative research to … the first trans-NIH Data Access Committee for the Genetic Association Information Network (GAIN), which …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… new types of variants  within human genomes. Human genomic variation is particularly important because a very small set … skin or eye color, type of earwax , and even specific genetic diseases. … Rick Guidotti built his career as a … taking beautiful photographs of children and adults with genetic conditions that we don't always see showcased in …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… approach used in genetics research to associate specific genetic variations with particular diseases. … Genome-Wide … Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A … approach used in genetics research to associate specific genetic variations with particular diseases. … Educational …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 2 ( Madison Room ) How and why to approach structural variation and other "hard to measure" variation? Co-Chairs : Charles Lee Karen Miga Breakout 3 ( … Bridging Day 1 and Day 2: Connecting discussions about variation, function and phenotype Part III: What should NHGRI …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … A … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once … reference human genome sequence, a map of human genetic variation and a set of new technologies that can quickly and …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… the biological significance of ancestry-related genomic variation in African-Americans. … GENE-FORECAST® will test … ancestry-related genomic variation in African-Americans. … Genetic Disorder, Genetic Condition, Gene Variation, Gene Mutation, African …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… of human genetics is to decompose the sources of trait variation into constituent causal factors. The hope is to … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic …