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hEVO genomic foundation model tops 18 of 19 benchmarks on human genetic diversity

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A research team has released hEVO, a genomic foundation model pretrained without labels on 4.784 billion haplotype sequences reconstructed from whole-genome sequencing data of 63,809 individuals across eight cohorts. In evaluations, hEVO ranked first in 18 of 19 primary comparisons against models including Evo 2, NT and GPN, and its pretrained allele scores achieved the highest performance on all six variant benchmarks, despite using fewer parameters than billion-parameter comparators. In a retrospective ClinVar pathogenicity reclassification review, the model identified pathogenic calls that had later been downgraded. The work was posted as a preprint on October 21, 2026. Independent peer review and broader clinical validation of the model's reclassification findings are still open.

Written by a model from the reports · updated 3 hours ago

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Oct 21
  1. bioRxiv
    A genomic foundation model for interpreting human genetic diversity

    A research team released hEVO, a genomic foundation model pretrained without labels on 4.784 billion haplotype sequences reconstructed from whole-genome sequencing data of 63,809 individuals across eight cohorts. In 19 primary comparisons against models including Evo 2, NT and GPN, hEVO ranked first in 18, and its pretrained allele scores achieved the highest results on all six variant benchmarks. It has fewer parameters than billion-parameter comparators, and a retrospective ClinVar pathogenicity reclassification review identified pathogenic determinations that had later been downgraded.

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