Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a free, online collection of materials for use in the classroom and for self-directed learning in … resource has been expanded to include a new collection of resources for physicians. "This resource seeks to bridge the …
News Release
An online Informed Consent Resource created in 2009 by NHGRI has been updated to keep pace with advances in genomics over the past several years
… sequencing technologies become increasingly affordable, genomics research is playing an ever-larger role across … advance understanding about how to harness the power of genomics to improve health. Those participants would join … policy landscape have contributed to new considerations for consent in genomic research," said Kate Saylor, health …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online collection of materials for self-directed learning in genetics and genomics, now … clinical advisor, Genomic Healthcare Branch. "The new resources on G2C2 provides pharmacists one convenient place …
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.
… panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and … ClinGen is providing much needed clarity for the clinical genomics community regarding which gene-disease pairs have … … Clinical utility … About NHGRI and NIH … Additional Resources … Genomics experts dispute nine genes linked to …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… about clinically relevant genes and genomic variants for use in precision medicine. The National Human Genome … from more than 40 countries, and its impact so far on genomics research and medicine.” To date, the ClinGen … polygenic risk scores. Researchers have used these ClinGen resources to improve the effectiveness, transparency and …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… heat rises and the summer arrives, you might be looking for some indoor activities to keep you cool. I suggest that … virtual NHGRI workshop entitled “Future Directions in Genomics and Health Equity.” The goal of the workshop was to … emerging set of NIH-supported cloud-based platforms and resources. When researchers access data from one site, there …
The Genomics Landscape
In the August 4, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the establishment of the Global Biodata Coalition (GBC), which aims to move towards more internationally coordinated, sustainable, and streamlined mechanisms that support the biodata ecosystem.
… not recognized until the 20th century, it paved the way for future research in genetics, including the discovery of … ( part 1 and part 2 ) produced by the NHGRI History of Genomics Program and a recent fireside chat that I had with … of efforts to develop robust and readily available data resources (e.g., databases and knowledgebases). A number of …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… in DNA amplicons. bam2mpg A Bayesian genotype caller for NextGen sequencing data. BuddySuite A collection of four … massively parallel sequencing experiments. … Available Resources … Data Tools and Resources … Our researchers develop freely available software …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… samples and information on gene expression — important resources that scientists needed to understand how … adult postmortem donors. It also established a resource for researchers to explore gene expression in many different … Connecticut (funded by NHGRI, NINDS, NIMH) … Additional Resources … NIH will expand existing gene expression …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… and research experts to develop standard processes for reviewing data about gene variants and their connections … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to … variants. The registry is part of the Global Alliance for Genomics and Health, an organization dedicated to the …