We next performed a within-trio analysis, quantifying the difference in PGS liability between a proband and each of their parents and compared this quantity with repeated random sampling from nominally significant PGS with matching direction of effect and not linked to proband VUS HPOs (N permutations = 10,000; median PGS per proband = 168).
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Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
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