Search Results
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)  …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… essentially unchanged in >20 years: provide contemporary genome-sequencing capabilities for intramural researchers at … that mission, regularly generating large amounts of genome-sequence data and analyses for numerous NHGRI and NIH investigators …
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 …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… the National Association of Scholars event "Unlocking the Genome: The Human Genome Project" featured me, Aristides … was “how can NHGRI’s IRP be a recognized leader in genomic data science?" Ongoing advances in genomics tools and … research group develops and uses computational methods to sequence and analyze genomes. Notable achievements of his …
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 …
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
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 …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… for Genomics and Data Science research and head of the Genome Informatics Section at the National Human Genome … for Genomic Research, he developed algorithms for whole-genome alignment that were used by the FBI to trace the … In 2022, his team published the first truly complete sequence of a human genome, revealing over 200 million bases …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National … Consortium to help produce the first complete human genome sequence and a more diversely representative human genome … adapt and implement pioneering methodologies, such as whole-genome sequencing, that were made possible by new …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… a White House event to announce the completion of a draft sequence of the human genome. The ceremony took place in the East Room of the White … recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are a …