Browsing by Author "Tayoun, Ahmad Abou"

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Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects

Tayoun, Ahmad Abou (2021)

Introduction: Genetic variants in over 100 genes can cause non-syndromic hearing loss (NSHL). Comprehensive diagnostic testing of these genes requires detecting pathogenic sequence and copy number alterations with economical, ...
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

Tayoun, Ahmad Abou (2021)

Abstract: The American College of Medical Genetics and Genomics, and the Association for Molecular Pathology (ACMG/AMP) have proposed a set of evidence-based guidelines to support sequence variant interpretation. The ...