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Article

Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.

BMC genomics - 4 Aug 2021

Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur A

Abstract excerpt

BACKGROUND: To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG), we used genotype data of POAG individuals and healthy controls from two case-control studies, AGS (n = 278) and GLGS-UGLI (n = 1292). PennCNV, QuantiSNP, and cnvPartition programs were used to detect CNV. Stringent quality controls at both sample and marker levels...

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Identifiers

PMID: 34348663
DOI: 10.1186/s12864-021-07846-1
PMCID: PMC8336345

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