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- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- 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)1
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing Program … including: Tracking genome sequencing and analysis costs; data production and deposition; project completion Being a … Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Coordinates activities across the …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research. Multi-omics refers to a … for Health and Disease Consortium … About NHGRI and NIH … NIH awards $50.3 million for “multi-omics” research on …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… Study was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … or ClinicalTrials.gov Identifier: NCT03854318 . To learn more or enroll in the Natural History Study, email … clinicians in these circumstances to obtain as much useful data as possible. Will I be able to visit a local doctor to …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… medicine and spurs the development of infrastructure to support clinical genomics in the NIH Clinical Center. … The program provides an exciting … within their Institutes to effectively use genomic data in clinical research and clinical care. The NIH Office …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Valentina Di Francesco is NHGRI's first Chief Data science Strategist and Director of the Office of Genomic … Ms. Di Francesco also contributed to several trans-NIH data science committees and activities, including the NIH … high-throughput "omics" technologies, the development of big-data management and integration tools, and predictive …
News Release
The NIH-funded Genomic Data Science Community Network unites institutions from across the country to diversify young researchers working in genomic data science.
… The NIH-funded Genomic Data Science Community Network unites institutions from across the country to diversify young researchers working in genomic data … of California, Riverside was my lack of experience and knowledge about basic research,” she said. “Recognizing the …
The Genomics Landscape
In the January 13, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., announces the appointment of Valentina Di Francesco as founding director of the NHGRI Office of Genomic Data Science.
… obituary for Debbie, which can be found here . At NIH, we start 2022 under a continuing resolution (CR), which … move into 2022, stay safe and healthy! All the best, … Data sharing is central to the field of genomics. Both human … in genomic data science. With the growing importance of “big data” and data science in genomics (and, increasingly, …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… budget for the current fiscal year. The CR allows NHGRI to continue functioning and performing most of its normal … hosted by NHGRI staff. The first, entitled “ Applying for NIH Grants: Strategies for Success ,” will provide an inside … Healthcare Interoperability Resources (FHIR) is a clinical data standard and an application programming interface to …
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).
… Happy New Year to you and yours — and here’s to a 2024 featuring many … was “how can NHGRI’s IRP be a recognized leader in genomic data science?" Ongoing advances in genomics tools and … to human disease. The group will serve as a focal point at NIH for analyzing genomic data in laboratory and clinical …
Event
On November 18, 2021, NHGRI will host an NIH Genomics and Health Disparities Special Interest Group lecture, "NIH Approach to Inclusive Excellence - The COSWD Viewpoint" by Marie A. Bernard, M.D.
… Marie A. Bernard, M.D. leads NIH thought regarding the science of scientific workforce … assuring that the full range of talent is accessed to promote scientific creativity and innovation, both … intramurally and extramurally. Dr. Bernard also co-leads NIH’s newly announced UNITE initiative to end structural …