Article
Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
Investigative ophthalmology & visual science - 3 Aug 2020
Whitman Mary C, Di Gioia Silvio Alessandro, Chan Wai-Man, Gelber Alon, Pratt Brandon M, Bell Jessica L, Collins Thomas E, Knowles James A, Armoskus Christopher, Pato Michele, Pato Carlos, Shaaban Sherin, Staffieri Sandra, MacKinnon Sarah, Maconachie Gail D E, Elder James E, Traboulsi Elias I, Gottlob Irene, Mackey David A, Hunter David G, Engle Elizabeth C
Abstract excerpt
Purpose: To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia. Methods: CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two Hidden Markov model (HMM) algorithms, PennCNV and QuantiSNP, which call CNVs based on logR ratio and B allele frequency. Deletions and duplications greater than 10...
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