Browsing by Author "Tayoun, Ahmad Abou"
Now showing items 21-24 of 24
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Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19
Nassir, Nasna; Tambi, Richa; Bankapur, Asma; Al Heialy, Saba; Karuvantevida, Noushad; Zehra, Binte; Begum, Ghausia; Hameid, Reem Abdel; Ahmed, Awab; Shabestari, Seyed Ali Safizadeh; Kandasamy, Richard K; Loney, Tom; Tayoun, Ahmad Abou; Nowotny, Norbert; Hachim, Mahmood Yaseen; Berdiev, Bakhrom; Alsheikh-Ali, Alawi; Uddin, Mohammed (2021)Summary: Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue specimens from patients with life-threatening ... -
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 ...