Article
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Human genetics - 1 Jul 2018
Liu Jiaqi, Zhou Yangzhong, Liu Sen, Song Xiaofei, Yang Xin-Zhuang, Fan Yanhui, Chen Weisheng, Akdemir Zeynep Coban, Yan Zihui, Zuo Yuzhi, Du Renqian, Liu Zhenlei, Yuan Bo, Zhao Sen, Liu Gang, Chen Yixin, Zhao Yanxue, Lin Mao, Zhu Qiankun, Niu Yuchen, Liu Pengfei, Ikegawa Shiro, Song You-Qiang, Posey Jennifer E, Qiu Guixing, Zhang Feng, Wu Zhihong, Lupski James R, Wu Nan
Abstract excerpt
With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of recombination events that can induce the distortion of multi-allelic or hemizygous variants has received more attention. However, the potential distorted calculation bias or...
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