PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

PLoS Genet · 2025 · PMC12714201 · PMID 41411243

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marginal significanceno p-value reported

As shown in Table 3 , both SPRED1 and LZTR1 exhibited marginal significance in PERADIGM, whereas SKAT-O identified only LZTR1 as marginally significant.

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marginally significantno p-value reported

Several genes previously linked to ADPKD, including ALG8 [ 32 ], ALG9 [ 33 ], and COL4A1 [ 34 ], showed marginally significant associations when analyzed with PERADIGM.

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