Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
Programs
- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Ethical, Legal and Social Implications (ELSI) Research Program1
Research Funding
A scalable and interoperable resource that leverages cloud-based infrastructure for genomic data access, sharing and computing.​
…  AnVIL facilitates integration and computing on and across large datasets generated by NHGRI programs, as well as … advance for storing, accessing, sharing and computing on large genomic datasets  View: A Summary of Accomplishments … projects relevant to NHGRI’s mission using AnVIL for large-scale data analysis with cloud computing credits. … …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… NIH researchers find that large language models rely on concise, textbook-like language … questions. The researchers studied a type of AI known as a large language model, which is trained on massive amounts of … between doctors and patients all consist of words. Large language models have been a huge leap forward for AI, …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… needed are facile, high-throughput methods for generating libraries of human cells bearing mutant sequence elements and … This effort will inform the use in the clinic of the large-scale functional data the Center's technologies will … the vast landscape of human genetic variation. Center for Synthetic Regulatory Genomics RM1 HG009491 Jef Boeke New York …
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… and imaging, and health informatics and medical libraries. All the best,  …  Pursue advances in genomics as … now capable of sequencing many genomes at a time, amassing large inventories of genomic variation, and assaying the … to DNA mapping, sequencing, genotyping, gene expression, synthetic DNA, and epigenetics. Recent funding opportunities …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… to develop a test to detect these mutations, because most large genes have many regions where mutations can occur. For … On the surface, each chip contains thousands of short, synthetic, single-stranded DNA sequences, which together add … as a research tool. Scientists continue today to conduct large-scale population studies - for example, to determine …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Institute of Technology 9:45 a.m. Opportunity Fund Update: Synthetic Control Set for Accurate Nanopore-Based Single … Institute of Technology 9:45 a.m. Opportunity Fund Update: Synthetic Control Set for Accurate Nanopore-Based Single … 11:45 a.m. GenSyn: A Cycle for Serial Assembly of very Large DNA Molecules David Schwartz, Ph.D. University of …
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… and African sleeping sickness . "There is a great need for large-scale genetic investigations of diverse groups of …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… in the heme production process. Heme is a chemical compound that contains iron and gives blood its red color. … and interpretation of the tests may be complex. A large number of tests are available, however, but results …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… researchers propose that either these few events have a large impact or the extended duration of neural plasticity in … and a group from Ripple Effect, Inc. — completed a large-scale evaluation of the institute’s Centers of …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Project and the Exome Aggregation Consortium (ExAC) harbor large numbers of genotypes (an individual's collection of … and Musculoskeletal and Skin Diseases (NIAMS). "This is large-scale sharing of data and research volunteers. We will … already sequenced cohorts and making them available to large numbers of researchers." A researcher might locate a …