Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… They identified the small molecule compound through high-throughput screening, which tests hundreds of thousands of small …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… The stakes for identifying variants that matter can be high. "Mistakes are happening in the clinic based on … can potentially lead to misdiagnoses and unnecessary screening tests and treatments, including surgery. At the … New analytical, predictive modeling methods and high-throughput DNA sequencing technologies are needed to improve …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… at once is becoming increasingly possible with advances in high-throughput technologies and data science. The integration of … processed at the omics production center, which will use high-throughput molecular assays to generate genomic, …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… Research Institute (NHGRI). Jyoti spent 17 years in a high-throughput DNA sequencing lab at the NIH Intramural …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… and established initiatives focused on the use of high-throughput "omics" technologies, the development of big-data …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10: Population Genomic Screening in Primary Care Pre-Application Webinar October …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… the design and selection of overgo probes optimized for high-throughput comparative mapping. SubmiRine A software package …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute.
… evaluation of candidate variants, and the development of high-throughput genomic technologies related to gene expression or …
Policies and Guidance
Broad data sharing promotes maximum public benefit from federally funded genomics research. NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories. These repositories may be open access (unrestricted) or, if more appropriate, controlled access.
… molecular data produced by array-based technologies or high-throughput sequencing technologies. Data pertinent to the …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… (CIDR) , a trans-NIH program that provides access to high throughput genotyping and next-generation sequencing services … and decision making through the CIDR Board of Governors, high-level oversight of project management, and data sharing …