Search Results
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 …
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 …
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 …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… (below) as research that uses genomics to generate or study. Category Information Content Genomic Medicine Resource … are defined as research that uses genomics to generate or study. … The categories for the notable accomplishments of … are defined as research that uses genomics to generate or study. … Genomics and Medicine …
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.
… manner that is consistent with the informed consent of the study’s participants. The growing demand for … D ata U se O versight S ystem ( DUOS ) is a semi-automated study registration and DAR management service informed by the … 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.
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… … NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit … ethnic groups. The work was funded by the National Human Genome Research Institute (NHGRI) and the National Institute … 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 … cancer responds differently to particular therapies. The study also showed that BRAF -driven tumors have a broader … by the National Cancer Institute and the National Human Genome Research Institute, both parts of the National …