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- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… mitochondria need to have a specific mutation to cause a disease.” Future studies are needed to look more directly at …
The Genomics Landscape
In the December 8, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., looks back on the success of the Genome: Unlocking Life's Code exhibition as it came to a close in November.
… – covering “what’s in your genome,” “what’s your genetic risk,” “what’s in your microbiome,” and “what genomics might … would help researchers establish their role in health and disease. A new study describes the development of a … Harris – December 15 Genomics Videos GM1 gangliosidosis disease overview - Dr. Cynthia Tifft Irreducible subjects: …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
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.
… which genes and genomic variants are relevant to human disease. NHGRI established the ClinGen consortium in 2013 to … works to identify which genes are associated with disease and which variants in those genes are … and guidelines for studies that evaluate polygenic risk scores. Researchers have used these ClinGen resources to …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown prostate … screen to diagnose rare genetic disorders and unravel disease mechanisms. (Clinical Genetic Testing) 2187T. … associated with parkinsonism in patients with Gaucher disease and GBA1 mutation carriers. (Metabolic Disorders) …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… in a genomic region known to be associated with increased risk for type 2 diabetes-related traits, which may give … Prolonged high blood sugar levels can lead to heart disease, kidney disease and vision loss. Currently, diabetes has no cure, but …
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… and clinical research investigating human biology and disease. To address this challenge, the National Human Genome … modifications are thought to influence human health and disease, our understanding of them has been limited by …
News Release
As director, Erin Ramos will lead the institute’s extramural programs in basic genomics research.
… she studied the genetic epidemiology of Alzheimer’s disease and simultaneously worked as a research consultant … protocols and data-access polices for the Alzheimer’s disease research community. During that time, she came to … projects and trans-NIH consortia, including the Polygenic Risk Methods in Diverse Populations (PRIMED) program, the …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… studies on genomic variation related to human health and disease. It was launched by NHGRI in 2008 in response to the … the influence of common genomic variants on complex disease. The GWAS Catalog provides a consistent, searchable, …