Capability of common SNPs to tag rare variants

BMC Proceedings

Proceedings

Junghyun Namkung¹  Xiaofeng Zhu¹  Xiangqing Sun¹  Robert C Elston¹ 

[1] Department of Epidemiology and Biostatistics, Case Western Reserve University, 44106, Cleveland, OH, USA;

关键词: Linkage Disequilibrium;    Minor Allele Frequency;    Rare Variant;    Rare Allele;    Strong Linkage Disequilibrium;   

DOI  :  10.1186/1753-6561-5-S9-S88

来源: Springer

【 摘 要 】

Genome-wide association studies are based on the linkage disequilibrium pattern between common tagging single-nucleotide polymorphisms (SNPs) (i.e., SNPs having only common alleles) and true causal variants, and association studies with rare SNP alleles aim to detect rare causal variants. To better understand and explain the findings from both types of studies and to provide clues to improve the power of an association study with only common SNPs genotyped, we study the correlation between common SNPs and the presence of rare alleles within a region in the genome and look at the capability of common SNPs in strong linkage disequilibrium with each other to capture single rare alleles. Our results indicate that common SNPs can, to some extent, tag the presence of rare alleles and that including SNPs in strong linkage disequilibrium with each other among the tagging SNPs helps to detect rare alleles.

【 授权许可】

CC BY   
© Sun et al; licensee BioMed Central Ltd. 2011