Search Results
News Release
Three practical strategies for reducing the risk of re-identification, the process by which anonymized personal genomic data are matched with the owner.
… Data sharing is key to the success of medical research, and participants in medical research are often those most eager to see their … equation. A paper published in the Journal of the American Medical Informatics Association compares three practical …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… datasets, receiving FDA approval for ML/AI-enabled medical devices in fields such as radiology, cardiology, and various …
Investigación ClÃnica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… HealthDay July 1, 2014: NIH expands program to crack medical mysteries Science July 1, 2014: Medical Mysteries: New Network Will Help Rare Disease … Diseases Associated Press July 1, 2014: U.S. agency taps medical centers to investigate rare diseases Reuters July 1, …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
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.
… models rely on concise, textbook-like language to evaluate medical questions. … including two recent versions of ChatGPT. Drawing from medical textbooks and other reference materials, the … and tested the models in various ways, including replacing medical terms with more common language. For example, instead …
Contact Us
We write stories, take photos, film video and create websites and graphics that help people understand genomics research and how it can have an impact on their lives. Let us know how we can help tell your story.
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… long QT syndrome can result in inappropriate and costly medical interventions such as implanting of a …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… to discuss our family and personal histories of medical and mental health, followed by cognitive testing …
Policies and Guidance
Guidance describing NHGRI’s position on appropriate third-party involvement.
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
… for a patient. It doesn't mean that the use of race in medical care will entirely go away, but its role will likely …