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Global Team Releases Most Complete Human Pangenome and Maps 175,000 Structural Variants

CATALONIA, SPAIN, JUL 23 – The study resolved 92% of previously missing genome data and revealed genetic variations across ancestries that influence disease risk and precision medicine outcomes.

  • Across two new papers published in Nature, scientists sequenced 1,084 genomes worldwide, closing 92% of missing data and producing the most complete genome map.
  • Following the 2023 draft pangenome from 47 individuals, scientists used milestones from 2022 and the Human Genome Project , prompting a more complete human genetic map.
  • Resolving 1,246 centromeres validated extreme variability, untangling 1,852 structural variants with an open-source playbook and fully mapping the Major Histocompatibility Complex linked to 100+ diseases.
  • Published in Nature, this work could expand the future of precision medicine, as the studies create a critical path benefiting all populations and provide open access data for global research.
  • Clinicians could use the map for tailored diagnoses and treatments, with insights into jumping genes clarifying their health roles, as researchers said.
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Phys.org broke the news in United Kingdom on Wednesday, July 23, 2025.
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