Ahmad Abou Tayoun
A5054572812- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- SARS-CoV-2 and COVID-19 Research
- Hearing, Cochlea, Tinnitus, Genetics
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- COVID-19 Clinical Research Studies
- interferon and immune responses
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Immunodeficiency and Autoimmune Disorders
- Prenatal Screening and Diagnostics
- Inflammasome and immune disorders
- Neurogenetic and Muscular Disorders Research
- Kawasaki Disease and Coronary Complications
- BRCA gene mutations in cancer
- Respiratory viral infections research
- Biomedical Text Mining and Ontologies
- Genetic Associations and Epidemiology
- CRISPR and Genetic Engineering
- Diabetes and associated disorders
- Ear Surgery and Otitis Media
- Molecular Biology Techniques and Applications
- Chromosomal and Genetic Variations
Mohammed Bin Rashid University of Medicine and Health Sciences
2020-2025
Al Jalila Foundation
2018-2025
University of Medicine and Health Sciences
2023-2024
Children's Specialty Group
2018-2024
Children's Hospital of Philadelphia
2015-2024
Medical University of Vienna
2021
University of Pennsylvania
2015-2020
Dartmouth College
2009-2019
Philadelphia University
2016
Dartmouth–Hitchcock Medical Center
2012-2015
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including criterion (PVS1) predicted loss of function variants. However, the did not elaborate specific considerations different types variants, nor it provide decision-making pathways assimilating information about type, its location, or any additional likelihood true null effect. Furthermore, this take into account relative...
Abstract Here the Human Pangenome Reference Consortium presents a first draft of human pangenome reference. The contains 47 phased, diploid assemblies from cohort genetically diverse individuals 1 . These cover more than 99% expected sequence in each genome and are accurate at structural base pair levels. Based on alignments assemblies, we generate that captures known variants haplotypes reveals new alleles structurally complex loci. We also add 119 million pairs euchromatic polymorphic...
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria different types evidence. This includes the strong evidence codes PS3 BS3 “well-established” functional assays demonstrating a has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how should be evaluated, differences in application PS3/BS3 are...
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers genes, which often yields a significant number novel variants. Therefore, standardization variant interpretation is crucial provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within Clinical Genome Resource expert guidance for standardized genomic in context HL. As one its major tasks, our has adapted American College...
Recommendations from the American College of Medical Genetics and Genomics Association for Molecular Pathology (ACMG/AMP) interpreting sequence variants specify use computational predictors as "supporting" level evidence pathogenicity or benignity using criteria PP3 BP4, respectively. However, score intervals defined by tool developers, ACMG/AMP recommendations that require consensus multiple predictors, lack quantitative support. Previously, we described a probabilistic framework quantified...
Abstract Background We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent interferon (IFN) immunity or autoantibodies against IFN, account for 15–20% cases life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants remain be identified ~ 80% cases. Methods report here a genome-wide rare variant burden association analysis 3269 patients with COVID-19, 1373 SARS-CoV-2-infected individuals without pneumonia. Among 928...
The ongoing COVID-19 pandemic is caused by the novel coronavirus SARS-CoV-2. Age, smoking, obesity, and chronic diseases such as cardiovascular disease diabetes have been described risk factors for severe complications mortality in COVID-19. Obesity are usually associated with dysregulated lipid synthesis clearance, which can initiate or aggravate pulmonary inflammation injury. It has shown that viral entry into host cell, SARS-CoV-2 utilizes angiotensin-converting enzyme 2 (ACE2) receptors...
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal swabs patients with COVID-19, identify a signature associated severity. Specifically, we globally dysregulated immune related pathways, such as cytokine-cytokine receptor signaling, complement coagulation cascades, JAK-STAT, TGF- β signaling all, though to higher extent severe symptoms. The...
Abstract Background Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and associated personalized management plans. Methods We established clinical genomics genetic counseling facility, within multidisciplinary tertiary pediatric center, United Arab Emirates locally diagnose manage patients with rare diseases. Clinical investigations included exome-based...
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly rare disease settings, where nearly half patients remain undiagnosed using existing technologies. Here, we report simplified funnel-down filtration strategy aimed at enhancing identification small large deleterious variants well abnormal episignature profiles from whole-genome LRS data....
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery novel gene-disease and variant-disease associations are expected increase the CES. Performing systematic reanalysis previously nondiagnostic CES samples represents significant challenge laboratories. Here, we present results automated methodology applied 300 initially analyzed between June 2014 September 2016. Application our reduced variant analysis burden by...
Abstract Background Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding disease epidemiology important implications screening, prevention, and those populations. Methods We perform diagnostic testing clinical multi-national patient cohort ( N = 171) referred hypotonia...
Inherited deficiency of the RNA lariat–debranching enzyme 1 (DBR1) is a rare etiology brainstem viral encephalitis. The cellular basis disease and range predisposition are unclear. We report inherited DBR1 in 14-year-old boy who suffered from isolated SARS-CoV-2 patient homozygous for previously reported hypomorphic pathogenic variant (I120T). Consistently, I120T/I120T fibroblasts affected individuals this another unrelated kindred have similarly low levels protein high lariats. human...