Mendel, a foundation model of human genetic variation, prioritizes regulatory variants and improves gene expression prediction

Human genome-wide association studies have identified hundreds of thousands of variant trait associations, but interpreting their mechanistic consequences at allele resolution remains a central bottleneck. DNA foundation models pretrained on genomic sequence corpora learn features predictive of regulatory activity, yet their training objectives are dominated by the conserved background common to…

biorxiv.org ·1d ago

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