Search Results
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Population genomics is the large-scale application of genomic technologies to study …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… when cells divide, and the pairing also underlies the methods by which most DNA sequencing experiments are done. … sequence DNA offers many potential advantages over current methods. The goal is for sequencing to cost less and be done faster. Unlike sequencing methods currently in use, nanopore DNA sequencing means …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… greater understanding of human disease and develop better methods for detection, prevention and treatment of heritable … and application of DNA microarray technologies for large-scale analyses of gene expression; creation of innovative …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… by applying tools ranging from high-throughput biologic methods, large scale informatics methods, classic bench laboratory …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Review 1. Testing and managing iron overload after genetic screening-identified hemochromatosis 2. Actionable genotypes … disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … newborns for whole-genome sequencing Population genomic screening for common hereditary conditions may be cost …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Institute of Technology, where he was part of a large effort to develop insertional mutagenesis in zebrafish, … homologs. In previous work, Dr. Burgess participated in a large-scale genetic screen for embryonic lethal phenotypes in the … Schier AF, Wolfsberg T, Pellegrini M, Burgess SM, Lin S. A large-scale zebrafish gene knockout resource for the …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
… Diego, where he oversaw the design and implementation of a large-scale mouse ENU mutagenesis screen. He has been working in …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… Studies  Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data … vulnerable or marginalized groups. NHGRI recognizes that methods for de-identification of qualitative and other data … . Certain studies, for example, qualitative or mixed-methods projects, may generate scientific data that are …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… be validated by other IGVF researchers using different methods. IGVF researchers will also use the findings to … They are also finding new ways improve the sensitivity and scale of functional assays and to develop predictive models. … disease traits are amongst the most studied traits in large-scale genomic studies. These traits have been linked to …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Genome Research Institute (NHGRI) are developing advanced methods for studying the fundamental mechanisms of inherited … clinical trials, the study drug or treatment is given to large groups of people (from 1,000 to 3,000), including … Genome Research Institute (NHGRI) are developing advanced methods for studying the fundamental mechanisms of inherited …