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News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
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 to evaluate … is trained on massive amounts of text-based data. These models have the potential to be very helpful in medicine due … doctors and patients all consist of words. Large language models have been a huge leap forward for AI, and being able …
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.
… most common, age-related dementia. "These new cellular models of Gaucher disease are helping to better explain the …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
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.
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… cloning to functional genomic analyses using animal models. She has participated in several collaborative … functioning splicing machinery in leukemogenesis. Animal models play a critical role in understanding the genetic … exome sequencing or transcriptome profiling), zebrafish models can be established to validate its role in the disease …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… therapies can be developed and tested. Many of these mouse models are named after the gene that has been inactivated. … cancer and blood cancers at an early age.Other mouse models are named, often with creative flair, according to …
Policies and Guidance
This page provides an overview of Resource Sharing Plans, a required document in most NIH funding applications. Most applicants for NIH funding must provide a Resource Sharing Plan (RSP) documenting plans for sharing resources that result from their federally funded work. NIH Policies that govern the sharing of resources include the NIH Model Organism Sharing Policy and the NIH Research Tools Policy.
… content)  Methods (e.g.,  analytical methods)  Models (e.g., AI/ML models, PRS models, including parameter specifications and training …