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Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … Dr. Stephen Groft (then Director of the NIH Office of Rare Diseases, now part of the National Center for Advancing … and genetics. Dr. Gahl, an expert on rare genetic diseases, served as the founding Director of the UDP and …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… The National Human Genome Research Institute (NHGRI) sponsored the NHGRI … workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Revisiting the Missing Heritability of Complex Diseases, Ten Years On …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … Diagnosing Rare Diseases … Williams-Beuren syndrome added to Atlas of Human Malformation Syndromes in Diverse Population …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health … the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … director for the UDN and an epidemiologist in the National Human Genome Research Institute's Division of Genomic …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… in npj Genomic Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … dysfunctional proteins. However, three other genes in the human genome serve very similar roles to ATG4D, and in some …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… The human genome reference is used by essentially all researchers … a critical resource for the genomics community. The NHGRI Human Genome Reference Program (HGRP) provides funding for efforts to maintain and improve the human genome reference resource. Recently it has become …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… understanding of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies … including societal and structural factors, influencing diseases and traits? What does this mean for understanding human biology as universal and for the generation of other …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences … The original human genome reference sequence was generated by the Human …