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Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Valentina Di Francesco is NHGRI's first Chief Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide leadership, … of microbial and mammalian genomes, including the human genome. Prior to that, she was a visiting research fellow at …
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.
… Elements Outlined by NIH Guidance  Genomic and phenotypic data, and any other data relevant for the study (such as exposure or disease … future use and sharing of genomic and phenotypic data.  Example 1: Consent for General Research Uses (GRU)  …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National … of Health (NIH), have produced the first end-to-end DNA sequence of a human chromosome. The results, published today … researchers to produce a complete sequence of the human genome.   “This accomplishment begins a new era in genomics …
Event
NHGRI holds a pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 1, 2023 at 2:00 pm ET.
… Broadening Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI holds a pre-application … Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 1, 2023 at 2:00 pm … Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 1, 2023 at 2:00 pm …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they sequenced … the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … Metabolic Genetics Branch (MGMGB) at the National Human Genome Research Institute (NHGRI) and corresponding author of …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… Intramural Research Program. … The National Human Genome Research Institute (NHGRI), part of the National … the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … research group develops and uses computational methods to sequence and analyze genome sequences. As a key leader of the …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome …
OGDS
NHGRI held a second pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 27, 2023 at 2:00 pm ET.
… Broadening Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI held a second … Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 27, 2023 at 2:00 pm … Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 27, 2023 at 2:00 pm …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… and consider how they relate to the ongoing use of legacy data;  Summarize current approaches to the use of population descriptors in/for legacy data;   Define challenges with current approaches to … Research Program National Cancer Institute National Human Genome Research Institute National Institute on Aging …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… The National Human Genome Research Institute (NHGRI) sponsored the meeting … develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines …