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- Ethical, Legal and Social Implications (ELSI) Research Program3
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- 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
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
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 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 …
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 …
The Genomics Landscape
In the January 13, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., announces the appointment of Valentina Di Francesco as founding director of the NHGRI Office of Genomic Data Science.
… three decades, starting before the launch of the Human Genome Project. She was a cherished NHGRI grantee, advisor, … move into 2022, stay safe and healthy! All the best,  … Data sharing is central to the field of genomics. Both human … Phenotypes (dbGaP), model organism databases (e.g., Mouse Genome Informatics and Xenbase ), and cloud repositories …
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 …
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
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 …
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 …