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-Reference-Cited by-同舟云学术

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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

Published:2018-07 Issue:6-7 Volume:137 Page:553-567
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

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^ORCID

Funder

National Natural Science Foundation of China

Beijing Natural Science Foundation

Beijing Nova Program

Beijing Nova Program Interdisciplinary Collaborative Project

2016 Milstein Medical Asian American Partnership Foundation Fellowship Award in Translational Medicine

The Central Level Public Interest Program for Scientific Research Institute

PUMC Youth Fund & the Fundamental Research Funds for the Central Universities

CAMS Initiative Fund for Medical Sciences

the Distinguished Youth Foundation of Peking Union Medical College Hospital

the 2016 PUMCH Science Fund for Junior Faculty

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-018-1910-3/fulltext.html

Reference91 articles.

1. Albers CA et al (2012) Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 44:435–439, S431–S432. https://doi.org/10.1038/ng.1083

2. Andrews T et al (2015) The clustering of functionally related genes contributes to CNV-mediated disease. Genome Res 25:802–813. https://doi.org/10.1101/gr.184325.114

3. Antonacci F et al (2010) A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet 42:745–750. https://doi.org/10.1038/ng.643

4. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE (2001) Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005–1017. https://doi.org/10.1101/gr.187101

5. Bailey JA et al (2002) Recent segmental duplications in the human genome. Science 297:1003–1007. https://doi.org/10.1126/science.1072047

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