Identification of low frequency and rare variants for hypertension using sparse-data methods

[摘要] Availability of genomic sequence data provides opportunities to study the role of low-frequency and rare variants in the etiology of complex disease. In this study, we conduct association analyses of hypertension status in the cohort of 1943 unrelated Mexican Americans provided by Genetic Analysis Workshop 19, focusing on exonic variants in MAP4 on chromosome 3. Our primary interest is to compare the performance of standard and sparse-data approaches for single-variant tests and variant-collapsing tests for sets of rare and low-frequency variants. We analyze both the real and the simulated phenotypes.

[发布日期] 2016-10-11

[关键词] Minor Allele Frequency;Rare Variant;Standard Score Test;Sequence Kernel Association Test;Simulated Phenotype