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Eleftherohorinou, H. et al. famCNV: copy number variant association for quantitative traits in families.
& Nickerson, D.A. Systematic assessment of copy number variant detection via genome-wide SNP genotyping.
Field, S.F. et al. Experimental aspects of copy number variant assays at CCL3L1.
A toolset for single nucleotide polymorphism (SNP) and copy number variant (CNV) whole-genome association studies.
Genome-wide copy number variant analyses were performed using intensity files from both platforms.
Copy number variant (CNV) regions have been proven to have a significant impact on gene expression.
Golzio, C. et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Dellinger, A.E. et al. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.
Xu, B. et al. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.
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The AMY2 copy number-variant haplotypes most commonly found in European individuals are the duplication of AMY2A and AMY2B and the deletion of AMY2A.
Families 1 8 underwent ES along with analysis using an in-house copy-number variant (CNV) detection algorithm3 (GeneDx, Gaithersburg, MD).
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