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<h4>Summary</h4>Nanopore sequencing technology enables real-time sequencing and is widely used in rapid detection applications. However, in clinical scenarios, existing structural variant (SV) detection tools typically separate sequencing from computation, limiting their timeliness for clinical applications. …
Read PDF<h4>Background</h4>The litchi fruit borer, <i>Conopomorpha sinensis</i> (Lepidoptera: Gracillariidae), is a devastating pest affecting litchi and longan production across Asia. Although a reference mitochondrial genome (mitogenome) has been published, its utility is limited by the lack …
Read PDFChronic kidney disease (CKD) is a major global health burden, and genetic testing is increasingly used to clarify diagnosis and guide management, particularly in inherited and early-onset disease. Short-read sequencing (SRS), including targeted gene panels, …
Read PDFThe genus Rubus serves as an ideal model for exploring plant genome evolution due to its complex polyploidization history, frequent interspecific hybridization, and exceptional adaptive capacity. Given its potential medicinal value and recognized invasive ecological …
Read PDF<h4>Background</h4>Nearly half of patients with rare genetic disorders remain undiagnosed, which may in part be due to limitations of current short-read sequencing (SRS) approaches in detecting complex genomic alterations. Long-read whole genome sequencing (lrWGS) technologies …
Read PDFRapid 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 …
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