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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National Human Genome Research Institute … NHGRI is part of the National Institutes of Health (NIH). For more than 7 years, Di Francesco has been the lead … Francesco has been serving as an interim special advisor to the NHGRI director on data science strategy since February …
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.
… in biomedical research, National Institute of Health (NIH) leaders are calling for the scientific community to develop a consensus on its appropriate use in research . … NHGRI and NIMHD to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research , and its …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… have developed a number of software and analysis tools to help researchers around the world analyze and explore their genomic data. These tools are free and openly accessible to anyone. … … bam2mpg A Bayesian genotype caller for NextGen sequencing data. BuddySuite A collection of four independent, yet …
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… will focus on the following topics: Overview of the NIH Data Sharing Management Policy Application of the DMS Policy to ELSI Research Data sharing templates and resources Q&A …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual patients are becoming more … but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most promising … caveats regarding statistical uncertainties, incomplete knowledge, and unanticipated findings, remain incompletely …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a major barrier to incorporating genomic medicine into healthcare, which is a … experts to develop standard processes for reviewing data about gene variants and their connections to health and …
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 … and more. NHGRI-funded researchers subject to NIH’s data sharing policies are expected to share …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… Program. Here, NHGRI provides an analysis of these data, which gives one view of the remarkable improvements in DNA sequencing technologies and data-production pipelines in recent years. … The … data presented here are summarized relative to two metrics: (1) "Cost per Megabase of DNA Sequence" - the …
Event
The Encyclopedia of DNA Elements (ENCODE) Consortium presented a half-day workshop on the accessibility & utilization of ENCODE data.
… Elements (ENCODE) held a workshop as an ancillary event to the American Society of Human Genetics (ASHG) annual … 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 …
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 … in genomic data science and data science activities at NIH, see the following resources: … As biomedical research …