Article

Association analysis of mitochondrial DNA heteroplasmic variants: methods and application

2024-01-13

Abstract excerpt

<h4>ABSTRACT</h4> We rigorously assessed a comprehensive association testing framework for heteroplasmy, employing both simulated and real-world data. This framework employed a variant allele fraction (VAF) threshold and harnessed multiple gene-based tests for robust identification and association testing of heteroplasmy. Our simulation studies demonstrated that gene-based tests maintained an appropriate type I er...

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Literature Corpus work: ec020f9d-19e7-594f-bf9d-af6af430bf05
DOI: 10.1101/2024.01.12.24301233

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