Search Results
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, …
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 …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a single actual human or a representation of human genomic variation. A reference sequence provides researchers a set of … as new information becomes available (e.g., data about genomic variation). The HGP’s human genome sequence was the …