Search Results
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… investigators develop and implement new technologies and bioinformatics tools for genome analysis that are integral to …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… disorders Participate in supervised clinical, laboratory, bioinformatics, or library research projects …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Using SNPChip Data to Inform NextGen Sequencing Choices. (Bioinformatics and Genomic Technology) 2259W. Samson Y. … to prioritizing variants from genome-scale sequencing. (Bioinformatics and Genomic Technology) 2404W. Claire L. …
News Release
Oral history videos feature conversations with genomics researchers and an interactive discussion with the institute's three directors.
… of the human genome, and Ewan Birney, Ph.D., who developed bioinformatics tools that contributed directly to the Human …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… effort. The PGS Catalog is funded by the EMBL European Bioinformatics Institute, University of Cambridge, Baker …
Research Funding
The PhenX Toolkit is a freely available web catalog of standard protocols for collecting data in biomedical and epidemiologic research
… features (e.g., Spanish language versions); and bioinformatics support (e.g., data dictionaries, REDCap …
News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… of California, Santa Cruz (UCSC) and the European Bioinformatics Institute (EBI), which will coordinate with …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… that include biomedical and ethical research projects, a bioinformatics network, and three biorepositories in Nigeria, …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
The Genomics Landscape
In the November 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the important genomics legacy of the Human Heredity and Health in Africa (H3Africa) program as it comes to an end.
… research on the continent has been the development of a bioinformatics network and a biorepository. All H3Africa data … and recombination detection. H3ABioNet is a Pan-African Bioinformatics network comprising 28 nodes distributed …