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Article

UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test.

American journal of human genetics - 2 Jan 2020

Zhao Zhangchen, Bi Wenjian, Zhou Wei, VandeHaar Peter, Fritsche Lars G, Lee Seunggeun

Abstract excerpt

In biobank data analysis, most binary phenotypes have unbalanced case-control ratios, and this can cause inflation of type I error rates. Recently, a saddle point approximation (SPA) based single-variant test has been developed to provide an accurate and scalable method to test for associations of such phenotypes. For gene- or region-based multiple-variant tests, a few methods exist that can adjust for unbalanced...

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Identifiers

PMID: 31866045
DOI: 10.1016/j.ajhg.2019.11.012
PMCID: PMC7042481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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