Rare-variant association testing for sequencing data with the sequence kernel association test.

Keywords

Genetic association, Association test, Covariate, Genome-wide association study, Type I and type II errors

References

• A Groupwise Association Test for Rare Mutations Using a Weighted Sum StatisticBo Eskerod Madsen, Sharon R. Browning — 2009
• Variance component testing in generalised linear models with random effectsXihong Lin — 1997
• Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.Bingshan Li, Suzanne M. Leal — 2008
• Semiparametric Regression of Multidimensional Genetic Pathway Data: Least‐Squares Kernel Machines and Linear Mixed ModelsDawei Liu, Xihong Lin, Debashis Ghosh — 2007
• Hypothesis testing in semiparametric additive mixed models.Daowen Zhang — 2003
• Testing for an Unusual Distribution of Rare VariantsBenjamin M. Neale, Manuel A. Rivas, Benjamin F. Voight — 2011
• An Introduction to Support Vector Machines and Other Kernel-based Learning MethodsNello Cristianini, John Shawe‐Taylor — 2000

Cited by

• Identification of Functional Variants in Alzheimer's Disease-Associated GenesSheng Chih Jin — 2014
• Contribution of IKBKE and IFIH1 gene variants to SLE susceptibilityJuan Hernández Andréu, Eva Asensio, Nieves Carmona González — 2013
• A Robust Model-free Approach for Rare Variants Association Studies Incorporating Gene-Gene and Gene-Environmental Interactions雅樹 佐仲, 浩二 中田, 千裕 野坂 — 2013
• Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration.E. Banfield, P. Brenni — 2014
• TARV: Tree-based Analysis of Rare Variants Identifying Risk Modifying Variants in CTNNA2 and CNTNAP2 for Alcohol AddictionDana Kraushar — 2014
• Pedigree-based random effect tests to screen gene pathwaysMercedes Sánchez — 2014
• A partition-based approach to identify gene-environment interactions in genome wide association studies淳史 辻本 — 2014
• Rare variant association studies: considerations, challenges and opportunitiesCY Tilley — 2015
• Small-Sample Kernel Association Tests for Human Genetic and Microbiome Association StudiesJoseph Francis Piccari — 2015
• The impact of genotype calling errors on family-based studiesC.F. Ng — 2016
• Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.Brookes family. — 2016
• Pathway-based approach using hierarchical components of collapsed rare variantsJoseph B. Geddes, Akhlesh Lakhtakia — 2016
• Illustrating, Quantifying, and Correcting for Bias in Post-hoc Analysis of Gene-Based Rare Variant Tests of AssociationKelsey Grinde, Jaron Arbet, Alden Green — 2017
• Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.James G. Speight — 2018
• Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian populationSirui Zhou, Ziv Gan‐Or, Amirthagowri Ambalavanan — 2018
• Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor CasesMark C. Wallace — 2018
• Joint Analysis of Multiple Interaction Parameters in Genetic Association StudiesЕремейшвили Автандил Владимирович, А. Л. Фираго — 2018
• Bayesian Parametric and Nonparametric Methods for Multiple QTL Mapping and SNP-Set AnalysisWonil Chung — 2013
• Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery diseaseJerzy Leśniak — 2024
• The genetic associations of rhegmatogenous retinal detachment and ectopia lentisAman Chandra — 2014

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