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- W4387218153 abstract "Abstract Family-based sequencing studies are increasingly used to find rare genetic variants of high risk for disease traits with familial clustering. Some of these studies collect families with multiple subtypes of a disease and sequence exomes of affected relatives for shared rare variants. Since different families can harbor different causal variants and each family harbors many rare variants, this study design is expected to have low power to detect causal variants. Our goal is rather to prioritize or rank shared variants for further investigation by, e.g., pathway enrichment analyses or functional studies. The transmission-disequilibrium test prioritizes variants based on departures from Mendelian transmission in parent-child trios. Extending this idea to families, we propose methods to prioritize rare variants shared in affected relatives with two disease subtypes, with one subtype more heritable than the other. Global approaches condition on a variant being observed in the study and assume a known probability of carrying a causal variant. By contrast, local approaches condition on a variant being observed in specific families to eliminate the carrier probability, an unknown nuisance parameter. Our simulation results indicate that global approaches are robust to mis-specification of the carrier probability and prioritize more effectively than local approaches even when the carrier probability is mis-specified." @default.
- W4387218153 created "2023-10-01" @default.
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- W4387218153 date "2023-09-30" @default.
- W4387218153 modified "2023-10-07" @default.
- W4387218153 title "Statistics to prioritize rare variants in family-based sequencing studies with disease subtypes" @default.
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- W4387218153 doi "https://doi.org/10.1101/2023.09.28.560053" @default.
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