Search Results
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 …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… to inaccuracies. … Researchers have found that previous studies analyzing the genomes of people with European … mixed genetic lineages, researchers at the National Human Genome Research Institute (NHGRI), part of the National … as admixture. As such, the results from previous genome-wide association studies that do not account for admixture in …
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 …
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 …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data or … … NOT-HG-21-022 : Notice Announcing the National Human Genome Research Institute’s Expectation for Sharing Quality …
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
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 projects: …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… Development, senior investigator in the National Human Genome Research Institute (NHGRI) Center for Precision Health … copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and … standard for Down syndrome research, used in preclinical studies for nearly 30 years. Along with some successful …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National … 5, 2015, and to be published in the July 2015 issue of Genome Research , the researchers reported that the … … A new role for zebrafish: larger scale gene function studies … A new method of targeting specific DNA sequences in …