Collapsing singletons may boost signal for associating rare variants in sequencing study

BMC Proceedings

Proceedings

Wei Wang¹  Zhi Wei¹ 

[1] Department of Computer Science, New Jersey Institute of Technology, University Heights Newark, 07102, New Jersey, USA;

关键词: Amyotrophic Lateral Sclerosis;    Rare Variant;    Association Test;    Intronic Region;    Sequence Kernel Association Test;   

DOI  :  10.1186/1753-6561-8-S1-S50

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Wang and Wei; licensee BioMed Central Ltd. 2014