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- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
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 … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… acquisition of large sample sets from unique populations. Studies of these rare patients and populations have proven … … Medical Genetics Branch … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. ​ … The Medical Genetics Branch studies inherited disorders of metabolism and of human …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or  Obtains, uses, studies, analyzes, or generates identifiable private …
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 …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… and approval times of researcher DARs. … National Human Genome Research Institute (NHGRI) National Institute for …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… to European populations in two public databases, the Genome-Wide Association Study Catalog (GWAS) and the database of …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex … clinical observation, genetic analysis and functional studies. MCIDGB investigators seek to understand the … Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… ethnic groups. The work was funded by the National Human Genome Research Institute (NHGRI) and the National Institute … including people from different ethnic groups in research studies. This paper gives us a glimpse of how ethnic … differ from one group to another. For example, a strong association was found between a new genomic variant and …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… and treatment. … WHAT: Investigators with The Cancer Genome Atlas (TCGA) Research Network identified new molecular … by the National Cancer Institute and the National Human Genome Research Institute, both parts of the National … information about NHGRI can be found at http://www.genome.gov . NCI leads the National Cancer Program and the …