Browsing by Author "Tayoun, Ahmad Abou"
Now showing items 21-23 of 23
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Utility of clinical exome sequencing in a complex Emirati pediatric cohort
Uddin, Mohammed; Tayoun, Ahmad Abou (2020)Abstract: Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with a reported average diagnostic yield of ~25% in this patient poulation. The utility of CES in the ... -
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 ...