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Article

Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data.

PLoS computational biology - 1 Sept 2023

Boutry Simon, Helaers Raphaël, Lenaerts Tom, Vikkula Miikka

Abstract excerpt

The development of high-throughput next-generation sequencing technologies and large-scale genetic association studies produced numerous advances in the biostatistics field. Various aggregation tests, i.e. statistical methods that analyze associations of a trait with multiple markers within a genomic region, have produced a variety of novel discoveries. Notwithstanding their usefulness, there is no single test...

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PMID: 37708232
DOI: 10.1371/journal.pcbi.1011488
PMCID: PMC10522036

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