Search the literature by keyword, topic, or author. Filter to articles with full text available.
1474 results
Rapid identification of copy-number variations (CNVs) is crucial in prenatal diagnosis; however, current chromosomal microarray analysis (CMA) has a lengthy turnaround time. We evaluated the feasibility of low-pass nanopore sequencing for genome-wide CNV detection using …
Read PDFNo abstract available.
Read PDFGenome assembly from long-read sequencing data has become a standard approach for resolving complex genomic regions and producing high-contiguity assemblies. However, the diversity of available assemblers, their varying performance across species, and the need for …
Read PDF<h4>Background</h4>HIV drug resistance (HIVDR) testing remains essential for optimizing antiretroviral therapy (ART), yet access remains constrained by high cost, low throughput, and limited availability of Sanger sequencing in resource-limited settings (RLS). Recent improvements in Oxford …
Read PDFAntimicrobial resistance (AMR) poses a significant threat to public health, particularly in low- and middle-income countries where centralized genomic surveillance infrastructure is limited. To support decentralized AMR surveillance in Africa, the SeqAfrica project evaluated bioinformatics …
Read PDF<h4>Background</h4>Variants in the dentin sialophosphoprotein (<i>DSPP</i>) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). <i>DSPP</i> encodes a …
Read PDF<h4>Objective</h4>Although loiasis affects more than 20 million people and that its associated clinical complications can cause multiple organ failures, this disease remains understudied. Consequently, the elimination of loiasis is not on the agenda of public …
Read PDFBACKGROUND: Oxford Nanopore Technologies (ONT) workflows attach synthetic adapters and barcode oligonucleotides to DNA fragments for priming and multiplexing. Although these sequences are normally removed during basecalling or post-processing, incomplete trimming can embed non-biological fragments …
Read PDFNanopore sequencing with the MinION device has revolutionized genomic research. This study evaluated the MinION nanopore sequencer for accuracy, reliability, and reusability. Sequencing of λ phage DNA and <i>E. coli</i> DNA achieved high accuracy and …
Read PDFNo abstract available.
Read PDFAccurate viral genome characterization is essential for understanding viral dynamics. Oxford Nanopore Technologies (ONT) Direct RNA Sequencing provides detailed genomic data by directly reading RNA molecules, avoiding biases from reverse transcription and PCR. However, it …
Read PDF<h4>Background</h4>Rapid and accurate whole-genome sequencing (WGS) is increasingly important for detecting antimicrobial resistance and virulence determinants in clinical microbiology. Although short-read platforms remain widely used, long-read sequencing technologies have gained relevance due to their ability …
Read PDFPediatric emergency infectious diseases necessitate rapid and accurate etiologic diagnosis to inform timely, life-saving interventions. However, conventional diagnostic approaches are often hindered by prolonged turnaround times and limited capability in detecting diverse pathogens. Oxford Nanopore …
Read PDF<h4>Motivation</h4>Infectious diseases persist as a major global public health challenge. Diverse factors, including climate change, globalization, deforestation, human-animal interactions, lifestyle choices, and various biological factors, can contribute to their emergence and reemergence. Rapid detection and …
Read PDF