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Updated: Jul 17, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer

Konstantinos Agiannitopoulos1, Georgia Pepe2, Georgios N Tsaousis2

  • 1Genekor Medical S.A, Athens, Greece; kagiannitopoulos@genekor.com.

Cancer Genomics & Proteomics
|August 29, 2023
PubMed
Abstract

Keywords:
CNVsHereditary cancerMLPAcomputational CNV analysisdigital MLPA

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