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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- 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
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… Frequently Asked Questions Data sharing is an important aspect of the research endeavor … Institutes and Centers for use in research. The Human Genome Variation Society (HGVS)’s Sequence Variant Nomenclature is the most common standard for …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… Bruce Agnew … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for … into clinical medicine, is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer …
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 …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… - called "bases" - that make up the DNA molecule. The sequence tells scientists the kind of genetic information … genes on or off. In addition, and importantly, sequence data can highlight changes in a gene that may cause disease. … which most DNA sequencing experiments are done. The human genome contains about 3 billion base pairs that spell out the …
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 genomics since the Human Genome Project. While many recognize that sharing genomic … a central tenet of the field of genomics since the Human Genome Project. … Data sharing has been a central tenet of …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… Steven Benowitz … On July 28-29, 2014, the National Human Genome Research Institute (NHGRI) convened geneticists, … efforts to find causes of rare diseases and move genome sequence information into the clinic. In addition to the … This research should help determine the value of whole genome sequencing (examining all of the genome, not …
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 untangle the complexities of the genome and uncover genomic associations with health and … first truly complete, “telomere-to-telomere” human genome sequence. By developing new computational methods and …
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.
… Composition to Detect Conserved Enhancers where Sequence Alignment Fails HG012110 QIN, LI-XUAN … Evaluation and Development of Statistical Methods for Data Harmonization in Molecular Prognostication HG012124 … OF INDIANA UNIVERSITY Secure and Privacy-preserving Genome-wide and Phenome-wide Association Studies via Intel …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… Steven Benowitz … Genome researchers, clinicians, computational biologists and … sequencing technology applications and develop important data resources for the biomedical research community. … computational tools for genome analysis, ranging from DNA sequence processing to variant prediction and annotation. The …
Event
On November 30th, 2020, NHGRI convened a virtual meeting for journal editors and NHGRI/NIH staff to discuss genomic data sharing.
… Materials … On November 30, 2020, the National Human Genome Research Institute (NHGRI) convened a virtual meeting … 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 …