Composite Kernel Association Test (CKAT) for SNP-set joint assessment of genotype and genotype-by-treatment interaction in Pharmacogenetics studies
Author(s) -
Hong Zhang,
Ni Zhao,
Devan V. Mehrotra,
Judong Shen
Publication year - 2020
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btaa125
Subject(s) - type i and type ii errors , computer science , genome wide association study , pharmacogenetics , genetic association , kernel (algebra) , single nucleotide polymorphism , snp , statistical power , sample size determination , association test , computational biology , data mining , genotype , statistics , mathematics , biology , genetics , gene , combinatorics
It is of substantial interest to discover novel genetic markers that influence drug response in order to develop personalized treatment strategies that maximize therapeutic efficacy and safety. To help enable such discoveries, we focus on testing the association between the cumulative effect of multiple single nucleotide polymorphisms (SNPs) in a particular genomic region and a drug response of interest. However, the currently existing methods are either computational inefficient or not able to control type I error and provide decent power for whole exome or genome analysis in Pharmacogenetics (PGx) studies with small sample sizes.
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