Search Results
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Health Informatics Section relies on large scale data and bioinformatics approaches to more effectively characterize … a phenome-wide scan to discover gene-disease associations. Bioinformatics , 26 (9), 1205–1210. [ PubMed ] Kho, A.N., …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… and director of the Institute for Medical Biometry and Bioinformatics at the Medical Faculty, Germany Karen Miga, …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… alone. Using artificial intelligence and other advanced bioinformatics methods, his groups have tested approaches …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… the peoples of North Asia," said Narisu Narisu, Ph.D., bioinformatics scientist at NHGRI. "Our study provides …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… CCGO will also leverage clinical, scientific and bioinformatics resources within participating institutes. …
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
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 …