An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.

Hum Genet · 2025 · PMC12166291 · PMID 39869148

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highly significantno p-value reported

From the attention analysis we saw that for residue R377 the top attended residues T343, A345, Y335, D382, L381 are highly significant (Fig. 8 ).

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