A5102949113- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Cancer-related molecular mechanisms research
- Metabolism and Genetic Disorders
- Escherichia coli research studies
- Epigenetics and DNA Methylation
- Antibiotic Resistance in Bacteria
- RNA modifications and cancer
- Enterobacteriaceae and Cronobacter Research
- Genetic Syndromes and Imprinting
- Biochemical and Molecular Research
King Saud University
2023-2024
Federal Institute for Risk Assessment
2024
King Faisal Specialist Hospital & Research Centre
2023
University at Buffalo, State University of New York
2022
Abstract Background Long-read whole genome sequencing (lrWGS) has the potential to address technical limitations of exome in ways not possible by short-read WGS. However, its utility autosomal recessive Mendelian diseases is largely unknown. Methods In a cohort 34 families which suspected remained undiagnosed sequencing, lrWGS was performed on Pacific Bioscience Sequel IIe platform. Results Likely causal variants were identified 13 (38%) cohort. These include (1) homozygous splicing SV TYMS...
Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need accurate identification interpretation novel variants. In cohort 4577 molecularly families, numerous scenarios in variant can be challenging are encountered. We describe categories challenges that cover phenotype (e.g. allelic disorders), pedigree structure imprinting disorders masquerading as autosomal recessive...
Anthropogenic activities enhance the interconnection of human, animal, and environmental habitats drive evolution inter-niche transmission bacteria. Clear identification emerging bacteria pathogen control is therefore a public health priority. In 2015, novel
Introduction: Genome-wide association studies (GWAS) have identified numerous stroke-associated SNPs. To understand how SNPs affect gene expression related to increased stroke risk, we studied epigenetic landscapes surrounding 26 common, validated loci. Methods: We mapped the linkage disequilibrium (LD) blocks and examined H3K27ac, H3K4me1, H3K9ac, H3K4me3 histone marks transcription-factor binding-sites in pathologically relevant cell types (hematopoietic vascular cells). Hi-C data were...