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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, …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… is acceptable. Please do not send individual VCF files. Bioinformatics pipeline We strongly recommend the VCF file to …
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 …
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 … Applications …
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 …
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 …
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., …
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. …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… disorder (ADHD). Dr. Sudre uses his strong grounding in bioinformatics to tackle computational challenges inherent in …
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 …