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

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 misannotation of...

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Publicado no:Hum Genet
Main Authors: Liu, Jiaqi, Zhou, Yangzhong, Liu, Sen, Song, Xiaofei, Yang, Xinzhuang, 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6200315/
https://ncbi.nlm.nih.gov/pubmed/30019117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1910-3
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