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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
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 : … strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside or that they affect and …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… 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 … genome for strategically selected markers of genetic variation, which are called single nucleotide polymorphisms, …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… 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 … involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with … heart disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians … that has produced a valuable resource about human genomic variation," said Eric Green, M.D., Ph.D., director of NHGRI. …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… at <$0.09 per finished base November 2002 Human Sequence Variation 100,000 mapped human SNPs 3.7 million mapped human … mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide … Protein-protein Interactions, Data Sets Of Sequence And Variation … In 2003, an accurate and complete human genome …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… study is developing a community-based cohort and novel genomic science resource for defining the biological significance of ancestry-related genomic variation in African-Americans. … GENE-FORECAST® will test …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… of modern humans, Africa is home to the greatest genomic variation in the world. An important limitation to the field … groups. In addition to using these data to describe the genomic diversity within Africa with unprecedented breadth, …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function. … While most DNA …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… recently published a set of studies describing how DNA variation can alter gene expression. The group of papers, … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … trait loci (QTL), specifically associations between known genomic variants and the level of gene expression in various …