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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… false detection rate of 5 percent. About 96 percent of the genome can be studied with high confidence. More than 80 million variant sites in the genome have been found so far, including single nucleotide … and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… FISH … Cytogenetics is a branch of biology focused on the study of chromosomes and their inheritance, especially as …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer … For the last decade, scientists have used genome-wide association studies (GWAS) to find regions of the genome …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Network. eMERGE is supported by the National Human Genome Research Institute (NHGRI), part of the National … that information in hand, researchers performed genome-wide association studies (GWAS) to test hundreds of thousands of …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … In doing so, the CMGs will define the state-of-the-art study designs and methods to find the variants and genes … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and cost-effective than …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… Brody, Ph.D., a senior scientist at the National Human Genome Research Institute (NHGRI), part of the National … and three Es. These impacts have been studied in the human genome. However, Drs. Brody and Parle-McDermott aimed to look … researchers then examined data from the Framingham Heart Study , a long-term research effort conducted in the U.S. …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… molecular, and cell biological levels involve the direct study of human subjects as well as the development and use of …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… 2003 to work in genetic epidemiology at the National Human Genome Center at Howard University. He came to the NIH in … for obesity in an African population, the first genome-wide linkage analysis for serum lipids in an African … using genome-wide markers and the first genome-wide association study (GWAS) for hypertension and blood pressure …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… informed choice about whether to participate in a research study.  In the United States, the requirements for obtaining … taken by the U.S. Government during the Tuskegee Syphilis Study from 1932-1972 without the consent of the men involved in the study led to the creation of National Commission for the …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and Randomized … defined. Dr. Williams and his colleagues conducted genome-wide association studies of participants from two large long-term …