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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.
… genome sequence, adding over 100 million new bases. … News Release: Scientists release a new human “pangenome” … human genome to make it more equitable and inclusive NBC News: Scientists announce rough draft of human pangenome …
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.
… within the Institute’s Intramural Research Program. … News Release …
News Release
CRGGH researchers Amy Bentley and Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides.
… , and further details can be found in a recent press release . … Genome-Wide Gene-Smoking Interaction Study … lipoprotein cholesterol (LDL), and triglycerides. … News Release …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… related news release</a>).</p> <p>"Identifying the … Now, researchers have identified the genomic mutations. … News Release …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials … - otulipenia - that primarily affects young children. … News Release …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… [nature.com] Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of Behcet's disease unfolds along … the Behcet's disease using Illumina's Immunochip. … News Release …
News Release
NHGRI, NMNH and the NIH Foundation will present a symposium on the future of genomics, health, and the impact of genomics globally.
… genomics, health, and the impact of genomics globally. … News Release …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… - the final human chromosome to be fully sequenced. … News Release …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… diseases, experts from the UDN turned to Reddit - a social news website and discussion forum - to answer questions from … diseases, experts from the UDN turned to Reddit - a social news website and discussion forum - to answer questions from … to answer questions during an "Ask me Anything." … News Release …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… gene-editing to reverse sickle cell disease. … News Release …