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An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing Studies

2021-08-10

Abstract excerpt

<h4>ABSTRACT</h4> Over 90% of variants are rare, and 50% of them are singletons in the Alzheimer’s Disease Sequencing Project Whole Exome Sequencing (ADSP WES) data. However, either single variant tests or unit-based tests are limited in the statistical power to detect the association between rare variants and phenotypes. To best utilize rare variants and investigate their biological effect, we exam their associa...

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Literature Corpus work: 6865921f-a7d7-5431-96b1-26934876866b
DOI: 10.1101/2021.08.09.455695

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