Search Results
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… genetics and genomics Hover or swipe over the illustration to zoom. The Human Genome Project (HGP) Timeline contains major milestones in genomics from 1865 to 2003. Credit: Darryl Leja, NHGRI. Download the … unit or the group's revolutionary decision to share the data with all, the Project's intentions and goals have …
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 …
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 …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… Data sharing is an important aspect of the research endeavor that ensures maximal use of participants’ data for scientific discovery, rigor and reproducibility, and more. NHGRI-funded researchers subject to NIH’s data sharing policies are expected to share …
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).
… She will lead new NHGRI Office of Genomic Data Science. … Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of … NHGRI is part of the National Institutes of Health (NIH). For more than 7 years, Di Francesco has been the lead …
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 …
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 cost-accounting data presented here are summarized relative to two metrics: …
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 … NIH Data Sharing and Management Policy NHGRI’s Data Sharing … hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy , on Tuesday, …
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 …
Data Sharing Policies
Sample informed consent language, aligned with each of the informational elements of consent for genomic data sharing (GDS) outlined by NIH as important to convey, in language understandable to prospective participants.
… Sample Language Aligned to Informational Elements Outlined by NIH Guidance  Genomic and phenotypic data, and any other data relevant for the study (such as … Prior to submitting the data to an NIH-designated data repository, data will be … Access to de-identified, individual-level participant data will be controlled, unless participants explicitly …