Article
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Genome research - 1 Apr 2022
Jin Bowen, Capra John A, Benchek Penelope, Wheeler Nicholas, Naj Adam C, Hamilton-Nelson Kara L, Farrell John J, Leung Yuk Yee, Kunkle Brian, Vadarajan Badri, Schellenberg Gerard D, Mayeux Richard, Wang Li-San, Farrer Lindsay A, Pericak-Vance Margaret A, Martin Eden R, Haines Jonathan L, Crawford Dana C, Bush William S
Abstract excerpt
More than 90% of genetic variants are rare in most modern sequencing studies, such as the Alzheimer's Disease Sequencing Project (ADSP) whole-exome sequencing (WES) data. Furthermore, 54% of the rare variants in ADSP WES are singletons. However, both single variant and unit-based tests are limited in their statistical power to detect an association between rare variants and phenotypes. To best use missense rare...
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