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About NHGRI
A list of policies and guidance related to funding, genomic data sharing, website operations and our work environment at the National Human Genome Research Institute.
… A list of policies and guidance related to funding, genomic data sharing, website operations and our work environment at … list of policies and guidance related to funding, genomic data sharing, website operations and our work environment at … Institute. ​ … Website Accessibility, NIH Policy, Genomic Data Sharing, NHGRI Policy, NIH Website Policy, Copyright, …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… innovation in large-scale genomics, analysis tools, and data sharing in building a community resource. Dr. Sofia manages a genomics, data science, and informatics portfolio, which includes …
Strategic Plan
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… training; policy development and implementation to enhance data sharing; and the ethical, legal and social implications … clinical management), and (2) computational genomics and data science. In both areas, NHGRI has been heavily involved for …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… Institutes of Health. In a study published in the journal Science , collaborators at NHGRI, the National University of … “Having this kind of high-quality, whole-genome sequence data in hand allowed us to quickly narrow down the search for … reproduction, adult stem cells, whole-genome sequence data, CRISPR-Cas9, gene-editing … In a study published in the …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… for that particular person. This new field combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics. … … for that particular person. This new field combines the science of how drugs work, called pharmacology, with the …
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.
… Human Genome Project (HGP) was to submit their sequence data into a public database within 24 hours of being … to as the “Bermuda Principles.” The legacy of rapid data sharing within the HGP, as well as other large … a fundamental infrastructure for biomedical and life science research. These data resources often connect and …
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… practical experience with searching and downloading data from the ENCODE Portal, querying ENCODE data using the ENCODE Element Browser, exploring genome-scale chromatin interaction data using the 3D Genome Browser, and using the WashU …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… biodata resource ecosystem in an effort to facilitate data-resource sustainability. The group is seeking feedback … related to sustaining the biodata infrastructure and open data strategies. Feedback can be provided via the GBC’s … faculty and trainees are highly productive, the level of science is outstanding, and productivity is remarkable. With …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… a complex and sometimes contentious conversation about how science and society talk about human variation. Recognizing … NHGRI and NIMHD to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research , and its … the scientific rigor in collecting racial and ethnic data, especially in clinical settings; standardize …
Secondary Genomics Findings Service
How to send data, confirming preliminary results, and returning results
… After the SGFS has received your data in the form of a .vcf file, we will commence annotation. … your acceptance to the SGFS, you will also receive an SGFS Data Submission Form with the top part completed. Prior to submitting a batch of data, please complete and initial the bottom part of this …