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We have used multiple sequencing approaches to sequence the genome of a volunteer from Saudi Arabia. We use the resulting data to generate a de novo assembly of the genome, and use different computational approaches to refine the assembly. As a consequence, we provide a contiguous assembly of the complete genome of an individual from Saudi Arabia for all chromosomes except chromosome Y, and label this assembly KSA001. We transferred genome annotations from reference genomes to fully annotate KSA001, and we make all primary sequencing data, the assembly, and the genome annotations freely available in public databases using the FAIR data principles. KSA001 is the first telomere-to-telomere-assembled genome from a Saudi individual that is freely available for any purpose.
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http://dx.doi.org/10.1038/s41597-024-04121-2 | DOI Listing |
Front Med (Lausanne)
August 2025
Department of Pathology and Laboratory Diagnosis, College of Veterinary Medicine, Qassim University, Buraydah, Saudi Arabia.
Tuberculosis (TB) remains one of the leading causes of infectious disease mortality worldwide, increasingly complicated by the emergence of drug-resistant strains and limitations in existing diagnostic and therapeutic strategies. Despite decades of global efforts, the disease continues to impose a significant burden, particularly in low- and middle-income countries (LMICs) where health system weaknesses hinder progress. This comprehensive review explores recent advancements in TB diagnostics, antimicrobial resistance (AMR surveillance), treatment strategies, and vaccine development.
View Article and Find Full Text PDFVet World
July 2025
Veterinary Hospital, Faculty of Veterinary Medicine, Zagazig University, Zagazig, Egypt.
Background And Aim: is a multidrug-resistant (MDR) zoonotic pathogen increasingly implicated in infections in both humans and animals, including avian species. Raptors, particularly peregrine falcons, are vulnerable due to their exposure to diverse environments and intensive management practices. This study aimed to identify isolates from peregrine falcons in Saudi Arabia and to characterize their genomic features, phylogenetic relationships, and antimicrobial resistance (AMR) profiles using whole-genome sequencing (WGS).
View Article and Find Full Text PDFAm J Hum Genet
September 2025
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.
Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.
View Article and Find Full Text PDFJ Clin Invest
September 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom.
Understanding the genetic causes of diseases affecting pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy and diabetes syndrome (MEDS) is a congenital disorder with two known aetiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking.
View Article and Find Full Text PDFOpen Life Sci
September 2025
Physiology and Physiopathology Team, Faculty of Sciences, Genomic of Human Pathologies Research Centre, Mohammed V University in Rabat, Rabat, Morocco.
The legalization of cannabis for industrial and medicinal purposes has significantly expanded worldwide. This study delves into the analgesic potential toxicity study of chloroformic extract from the Moroccan L. () cultivar, Khardala (KH extract).
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