Search Results
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 … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such …
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 … The Medical Genetics Branch studies inherited disorders of metabolism and of human … The Medical Genetics Branch studies inherited disorders of metabolism and of human …
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 … are less certain. In the future, we need bigger human studies using more updated techniques.” Human studies will …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient … finding genetic relationships between regions of the human genome and cancer development, progression, response to …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
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 …
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 …
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 cost-effective than … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic …
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 large-scale human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing Plan. Follow the … for data sharing that are specific to NHGRI-supported studies. The NHGRI Data Sharing Governance Committee oversees …
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.
… National Human Genome Research Institute (NHGRI) National Institute for …