Search Results
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).
… was “how can NHGRI’s IRP be a recognized leader in genomic data science?" Ongoing advances in genomics tools and … included the creation of a new program focused on genomic data science, which directly led to the establishment of the NHGRI Center for Genomics and Data Science Research (CGDSR). The CGDSR actually represents …
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, … for NHGRI activities, programs and policies in genomic data science. Ms. Di Francesco joined NHGRI in 2014 and was …
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.
… incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … clues, like a blue sky,” he said. “The same is true for sequencing the human genome. Until now, the pieces were too … any unique clues, like a blue sky. The same is true for sequencing the human genome. Until now, the pieces were too …
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) … Prior to submitting the data to an NIH-designated data repository, data will be …
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 … 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.
… the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … and bioinformatic challenges facing individualized genome sequencing in a clinical research setting. Once they … of looking at the person after looking at the genomic data "iterative phenotyping." Researchers sifted through more …
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.
… the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … NHGRI to lead the burgeoning computational genomics and data science fields,” said Charles Rotimi, Ph.D., Scientific … Statistical Genomics Branch, the Center for Genomics and Data Science Research represents a reconfiguration of the …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… of genomic datasets that expand considerably the scale of data available for analysis in the newborn period. Clinical … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a … currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig …
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.
… will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” technologies, … in assembled genome sequences. The massive drop in DNA sequencing costs comes hand-in-hand with increased …
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 … 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 …