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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… with type 2 diabetes in Nigerians Doumatey, et al. Genome Med ., 2024 Mar, PMID : 38444015 It is estimated … million people worldwide have type 2 diabetes. However, studies of this condition have mostly been performed in North … been honored with the 2024 George M. Kober Medal from the Association of American Physicians. The Kober Medal is one of …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… of all the gene readouts present in a cell. … The human genome is made up of DNA (deoxyribonucleic acid), a long, … may enable researchers to generate a comprehensive, genome-wide picture of what genes are active in which cells. …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… variants and facilitated the large-scale implementation of genome-wide association studies. He is perhaps most well-known for being …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… genomics for improving human health. … The National Human Genome Research Institute (NHGRI), part of the National … beneficial and have the greatest impact on understanding genome biology and facilitating the implementation of genomic … and populations must be well-represented in both genomic studies and the genomics workforce. In the last three areas, …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… genetic disorders, with the hope that these preclinical studies will eventually lead to clinical trials and decrease … in the Metabolic Medicine Branch at the National Human Genome Research Institute (NHGRI), knows these skeletal … leads the Skeletal Genomics Unit at NHGRI, where he studies several rare skeletal disorders; his efforts range …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… University of Northern British Columbia … American Association of Critical-Care Nurses (AACN) defines … conditions or health habits that may affect a patient’s genome. Help families find answers to rare and common … (GC3) : a set of unfolding, interactive genomic case studies that allows participants to interview patients 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.
… large-scale sequence datasets. NIH is increasingly hosting genome-sequence datasets and other genomic datasets in cloud … to find that needle. Pooling datasets from multiple studies enhances the statistical power of the resulting … and genetics more accessible and understandable to a wide array of audiences. For additional materials, see all of …
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
… come from differences in our DNA sequences. The human genome is more than 3 billion letters long, which means that … represented in genomics research. The National Human Genome Research Institute (NHGRI) is working to enhance the … reflect the full spectrum of human populations in genomic studies, researchers can identify genomic variants associated …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Blood Advances , was led by researchers at National Human Genome Research Institute (NHGRI), part of NIH, The Johns … of breath, chest pain and fainting. While previous studies have demonstrated that in individuals with sickle …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the many … people’s faces . Researchers at the National Human Genome Research Institute (NHGRI) are increasingly using … step for using machine learning tools. Her research group studies physical movements in the virtual reality food buffet …