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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- 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
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
… workshop on the accessibility & utilization of ENCODE data. The workshop included an introduction to the ENCODE project and resources available to access ENCODE data, as well as specific research applications using ENCODE data. Additionally, there was designated time for attendees …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… Landscape Originally published: January 13, 2022 Data sharing is central to the field of genomics. Both human and non-human genomic data have been widely shared through public data resources, … and Xenbase ), and cloud repositories [e.g., the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)], …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables researchers to … research will generate between 2 and 40 exabytes of data within the next decade. Our ability to sequence DNA … from studying the genomes of living organisms. Data analysis: Using statistical and computational tools to …
Events
Data sharing has been a central tenet of the field of genomics since the Human Genome Project.
… Presentation Slides … Data sharing has been a central tenet of the field of … Genome Project. While many recognize that sharing genomic data is critical to scientific progress, considerable privacy … and other concerns have been raised over sharing genomic data too broadly and openly. It is immensely challenging for …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, … age of 8 years; almost half were female. Using facial analysis software and clinical criteria, the researchers … angles between different landmarks on the face. The facial analysis successfully diagnosed patients from all groups with …
Funding Opportunities
Funding Opportunities for Investigator-Initiated Research in Computational Genomics and Data Science
The Computational Genomics and Data Science Program Announcements (PARs) invite applications for investigator-initiated research efforts fostering innovation in computational genomics, data science, statistics, bioinformatics, and data visualization and exploration.
… Evaluation and Development of Statistical Methods for Data Harmonization in Molecular Prognostication HG012124 … Computational toolbox for spatial transcriptomic analysis of complex tissues HG012639 RIGOUTSOS, ISIDORE … bias correction model for bulk and single-cell CUT&Tag data HG012981 TINTLE, NATHAN L FATTY ACID RESEARCH INSTITUTE …
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
… Valentina Di Francesco, M.S. (NHGRI) 12:10 - 12:20 p.m. Data Science at the Forefront of Enhancing Diversity in … Hopkins University) Session 1: Concurrent Breakout Rooms Data Submission and Consortia Engagement Moderators: Adam … of Philadelphia) and Valentina Di Francesco, M.S. (NHGRI) Analysis Tools Moderators: Marylyn D. Ritchie, Ph.D. …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development and … approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic … to human disease. … Genomics is, fundamentally, a data science. Nucleic acids are the most abundant information …
Event
On November 30th, 2020, NHGRI convened a virtual meeting for journal editors and NHGRI/NIH staff to discuss genomic data sharing.
… for journal editors and NHGRI/NIH staff to discuss genomic data sharing. The goal of this meeting was to learn more … papers (“Journals”); and, to develop ideas to improve data sharing policy, its implementation, and the practice of leveraging data standards to optimize the utility of genomic data shared …
Event
On May 19-20, 2016, the National Human Genome Research Institute (NHGRI) hosted a two-day workshop where participants were asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users.
… Update Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects Report Resolving … weigh the benefits and risks of sharing aggregate genomic data with secondary users. … NISC, 5th Floor Conference Room … … MD … 5625 Fishers Lane … Workshop on Sharing Aggregate Data … On May 19-20, 2016, the National Human Genome Research …