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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… phenotyping of ~100,000 coding variants across Mendelian disease genes HG011989 Gary Hon William Kraus Nikhil Munshi … at Chapel Hill Systematic in vivo characterization of disease-associated regulatory variants HG012003 Luca Pinello … and context-dependent interplay between the many risk variants linked to brain disease. Noël Burtt and Jason …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… years, scientists have created hundreds of polygenic risk scores (PRSs), which are genetic tests that can be used … that have been shown to be associated with a particular disease. This involves analyzing genomic data from thousands … Since genomics accounts for only part of a person’s disease risk, the PRIMED Consortium is also investigating the …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Association, and Function in Human Health and Disease.” The workshop included valuable discussions about a … Association, and Function in Human Health and Disease Workshop” is available . Recent and upcoming NHGRI … disease, which is now the most common known genetic risk factor for Parkinson’s. … Long-time NHGRI Extramural …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… the case that variants in many genes contribute to the risk of developing traits and diseases. Scientists and … use tools called polygenic scores to calculate such a risk by combining information about all the genomic variants associated with a disease. Many examples of using polygenic scores have been …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people around the world have sickle cell disease, and this treatment offers great promise for … of using genomic information for screening, diagnosis, and risk assessment in healthcare. … The Global Biodata …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Cong Liu Columbia University Health Sciences RESCUE: Rare Disease Detection and Escalation Support Via a Learning … Ann Orlando Duke University Deploying a Genomic Medicine Risk Assessment Model for Diverse Primary Care Populations … and Efficient Implementation of Emerging Genomic Tests for Disease Management and Screening Marc S. Williams Geisinger …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific … contributions to phenotypes (physical characteristics or disease states). GTEx launched in 2010 and concluded in the …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… of research participants, maintain privacy, and mitigate risk, especially for vulnerable or marginalized groups. NHGRI … would be compromised or would place them at greater risk of re-identification or suffering harm, and 2) … and for what purposes (e.g., general research use, disease-specific research use) and whether sharing will occur …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… and observed “outcomes”, such as physical traits or disease risks. In genomics, association analysis statistics … be included in analytical models. For instance, Polygenic Risk Score (PRS) models include scoring files that contain … individual was in a particular group of a study (e.g., the disease group vs. the control group) but ONLY IF someone …
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.
… signature that could help in determining a person’s risk for type 2 diabetes and could inform future research … opportunities for understanding RNA’s role in health and disease. You can read more about the report in a new feature … investigator and head of NHGRI’s Inflammatory Disease Section (as well as a former NHGRI scientific …