@article{c6d9652142c5430c96af8bbe7944bcc9,
title = "Collapsing singletons may boost signal for associating rare variants in sequencing study",
abstract = "Advances in next-generation sequencing technology have made it possible to comprehensively interrogate the entire spectrum of genomic variations including rare variants. They may help capture the remaining genetic heritability which has not been fully explained by previous genome-wide association studies. Here we performed a gene-based genome-wide scan to identify hypertension susceptibility loci in analysis of a whole genome sequencing cohort of 103 unrelated individuals. We found that collapsing singletons may boost signals for associating rare variants and identified SETX statistically significant by a genome-wide gene-based threshold (p value <5.0 × 10-6). The function of SETX in hypertension may be worthy of further investigation.",
author = "Wei Wang and Zhi Wei",
note = "Funding Information: The authors would like to thank the Genetic Analysis Workshop 18 (GAW18) for preparing and providing the whole genome sequencing data set. We also thank Dr. Pingzhao Hu for the comments and suggestions on the analysis. We thank the 2 reviewers and Dr. Heather Cordell for their comments and advice, which helped to improve the presentation of the paper. The GAW18 whole genome sequence data were provided by the T2D-GENES Consortium, which is supported by NIH grants U01 DK085524, U01 DK085584, U01 DK085501, U01 DK085526, and U01 DK085545. The other genetic and phenotypic data for GAW18 were provided by the San Antonio Family Heart Study and San Antonio Family Diabetes/Gallbladder Study, which are supported by NIH grants P01 HL045222, R01 DK047482, and R01 DK053889. The Genetic Analysis Workshop is supported by NIH grant R01 GM031575. This article has been published as part of BMC Proceedings Volume 8 Supplement 1, 2014: Genetic Analysis Workshop 18. The full contents of the supplement are available online at http://www.biomedcentral.com/bmcproc/ supplements/8/S1. Publication charges for this supplement were funded by the Texas Biomedical Research Institute. Publisher Copyright: {\textcopyright} 2014 Wang and Wei; licensee BioMed Central Ltd.",
year = "2014",
month = jun,
day = "17",
doi = "10.1186/1753-6561-8-S1-S50",
language = "English (US)",
volume = "8",
journal = "BMC Proceedings",
issn = "1753-6561",
publisher = "BioMed Central",
}