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Molecular dissection of laboratory contamination between two schistosome populations.
Parasit Vectors
December 2024
Disease Intervention and Prevention Program, Texas Biomedical Research Institute, P.O. Box 760549, San Antonio, TX, 78245, USA.
Background: Genomic analysis has revealed extensive contamination among laboratory-maintained microbes including malaria parasites, Mycobacterium tuberculosis, and Salmonella spp. Here, we provide direct evidence for recent contamination of a laboratory schistosome parasite population, and we investigate its genomic consequences. The Brazilian Schistosoma mansoni population SmBRE has several distinctive phenotypes, showing poor infectivity, reduced sporocyst number, low levels of cercarial shedding and low virulence in the intermediate snail host, and low worm burden and low fecundity in the vertebrate rodent host.
View Article and Find Full Text PDFDevelopment and validation of a multiplex chip-based droplet digital PCR method for detecting CNVs in 7q11.2 and 22q11.2 regions.
Clin Chim Acta
December 2024
Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Center of Laboratory Medicine, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Copy number variations (CNVs) in the 7q11.2 and 22q11.2 chromosomal regions are major contributors to genetic disorders such as Williams-Beuren syndrome and 22q11.
View Article and Find Full Text PDFHeterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria.
Eur J Med Genet
December 2024
Department of Pediatric Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFGenes encoding antibiotic modifying enzymes conferring resistance against aminoglycosides in bacteria: Their identification and detection from wastewater.
Gene
December 2024
Biotechnology Division, Defence Research & Development Establishment, Jhansi Road, Gwalior-474002, MP, India. Electronic address:
Global reporting of antibiotic resistant bacteria (ARB) bearing antibiotic resistance genes (ARGs) have increased in the past decade. Sewage systems act as breeding grounds for these pathogens. Dumping of untreated sewage effluent in river water systems have aided in their dissemination and spread.
View Article and Find Full Text PDFUnveiling the mysteries of extrachromosomal circular DNA: from generation to clinical relevance in human cancers and health.
Mol Cancer
December 2024
Scientific Research Center, The Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, 518107, China.
Extrachromosomal circular DNAs (eccDNAs) are a type of circular DNAs originating from but independent of chromosomal DNAs. Nowadays, with the rapid development of sequencing and bioinformatics, the accuracy of eccDNAs detection has significantly improved. This advancement has consequently enhanced the feasibility of exploring the biological characteristics and functions of eccDNAs.
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