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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.
Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17.
Hum Genet. 2018.
PMID: 30019117
Free PMC article.
We also verified and assessed the influence of colocalizing CNVs to the detection sensitivity of disease-associated SNP variant alleles in another adolescent idiopathic scoliosis (AIS) genome-wide association study. ...
We also verified and assessed the influence of colocalizing CNVs to the detection sensitivity of disease-associated SNP variant alleles in a …
Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.
Chen J, Liu J, Zhou Y, Liu S, Liu G, Zuo Y, Wu Z, Wu N, Qiu G.
Chen J, et al.
J Mol Med (Berl). 2017 Dec;95(12):1303-1313. doi: 10.1007/s00109-017-1602-9. Epub 2017 Oct 23.
J Mol Med (Berl). 2017.
PMID: 29063142
Review.
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