Table 1.

Overview of contributions to the working group on collapsing methods

Contribution	Phenotype	Chromosomes	Unit to combine variants	MAF threshold	Statistical methods for association analysis of multiple variants
Agne et al. [2014]	Simulated HTN	3	Bins (with 100 SNPs)	Private SNPs	Proportion of private SNPs in cases for low- and high-environment groups
Dering et al. [2014]	Simulated HTN	All but chromosome 5	Gene	0.05	FPCA, CMC
Derkach et al. [2014]	Real HTN; simulated DBP, SBP	3	Gene, coding, protein changing, protein damaging	0.05	CAST, w-Sum, C-alpha, Hotelling, SKAT-O, minimum p-value, Fisher’s
Mallaney and Sung [2014]	Simulated DBP, SBP	All	Gene	All, 0.05	SKAT with three weighting schemes (equal, Madsen-Browning, and default)
Nalpathamkalam et al. [2014]	Not applicable	All	Not applicable	All	Variant prioritization (e.g., coding, protein-changing, and protein-damaging variants)
Sung et al. [2014]	Simulated SBP	3	Gene	All, 0.05	SST modified for family data
Swartz et al. [2014]	Simulated HTN	Causal genes on chromosome 3	Gene	0.05	VT, RBS, C-alpha, SKAT, modified RBS
Xuan et al. [2014]	Simulated SBP	1, 3, 5	Bins (with 10 kbp, 100 kbp, 500 kbp), gene	0.01, 0.05	HC, minimum p-value, SKAT
Yang and Li [2014]	Real DBP, SBP, HTN	All	Sliding windows (5% SNPs on chromosome)	0.05	Runs of homozygosity

CAST, cohort allelic sum test; CMC, combined multivariate and collapsing; DBP, diastolic blood pressure; FPCA, functional principal components analysis; HC, higher criticism; HTN, hypertension; MAF, minor allele frequency; RBS, replication-based weighted-sum statistic; SBP, systolic blood pressure; SKAT, sequence kernel association test; SKAT-O, SKAT with the use of the optimal weighted average; SNP, single-nucleotide polymorphism; SST, simple sum test; VT, variable-threshold; w-Sum, group-wise weighted sum.