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Penetrance estimation of <i>SORL1</i> loss-of-function variants using a family-based strategy adjusted on <i>APOE</i> genotypes suggest a non-monogenic inheritance

2021-07-01

Abstract excerpt

For complex disorders, estimating the age-related penetrance associated with rare variants of strong effect is essential before a putative use for genetic counseling or disease prevention. However, rarity and co-occurrence with other risk factors make such estimations difficult. In the context of Alzheimer disease, we present a survival model to estimate the penetrance of SORL1 rare (allele frequency< 1%) Loss-of...

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Literature Corpus work
5103bd02-8da2-5522-8bdf-55765510403a
DOI
10.1101/2021.06.30.450554
Open publication

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Penetrance estimation of <i>SORL1</i> loss-of-function variants using a family-based strategy adjusted on <i>APOE</i> genotypes suggest a non-monogenic inheritanceDOI 10.1101/2021.06.30.450554
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