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BACKGROUND: Sulawesi’s ancient lakes represent biodiversity hotspots for various freshwater groups such as gastropods, shrimps, and crabs, as well as fishes. The less known Lake Poso in the northern part of the island is home …
Read PDF<h4>Background</h4>Long-read sequencing (LRS) improves genome alignment and facilitates resolving variants in genomic regions of low complexity, making it a promising approach for cancer variant detection and biomarker discovery.<h4>Results</h4>Here, we evaluate the performance of LRS using …
Read PDFDysregulation of alternative splicing - mediated by factors such as RBM20 or SLM2 - can affect proper gene isoform control, disrupting gene isoform homeostasis and underpins severe cardiomyopathy in both animal models and patients. Although …
Read PDFHereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically …
Read PDF<h4>Purpose</h4>This study aimed to evaluate the utility of long-read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic …
Read PDF[This corrects the article DOI: 10.1002/rmb2.70038.].
Read PDFLong-read sequencing (LRS) technologies have enhanced the ability to resolve complex genomic architecture and determine the 'phase' relationships of genetic variants over long distances. Although genome-wide association studies (GWAS) identify individual variants associated with complex …
Read PDFLong-read sequencing improves sensitivity to discover variation in complex repetitive regions, assign parent-of-origin, and distinguish germline from postzygotic mutations. We applied Illumina, Oxford Nanopore Technologies, and PacBio sequencing to discover and validate de novo mutations …
Read PDFIn recent years, long-read sequencing technologies have detected transcript isoforms with unprecedented accuracy and resolution. However, it remains unclear whether long-read sequencing can effectively disentangle the isoform landscape of complex allele-specific loci that arise from …
Read PDFEnterotoxigenic Escherichia coli (ETEC) is a major cause of diarrhoea in children, adults and travellers in endemic regions. ETEC pathogenesis is mediated by heat-labile (LT) and heat-stable (ST) enterotoxins together with colonization factors. In this …
Read PDF<h4>Purpose</h4>CD36 deficiency predisposes to fetal/neonatal alloimmune thrombocytopenia (FNAIT) and platelet transfusion refractoriness (PTR), yet its genetic architecture remains incompletely understood. In particular, the contribution of large structural variants has been difficult to assess using conventional …
Read PDFTandem repeat expansion disorders can be difficult to diagnose when expansions exceed 200 repeats, as standard methods (for example, Southern blot and modified PCR) often fail. We present a Cas9-targeted nanopore sequencing workflow and an …
Read PDFThe European brown hare (Lepus europaeus) is a declining wildlife species of ecological and epidemiological importance, yet its intestinal microbiome remains poorly characterized. Here, Oxford Nanopore long-read sequencing was used to analyse full-length 16S and …
Read PDFPrimary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the …
Read PDFTandem repeats (TRs) play essential roles in a variety of biological functions, and their abnormal expansions are significantly implicated in phenotypic variation and cause >60 human diseases. However, long TR regions cannot be reliably detected …
Read PDFNuclear mitochondrial DNA segments (NuMTs) can contribute to cancer development and disease progression by disrupting protein-coding genes. Furthermore, their presence confounds mitochondrial variant detection, underscoring the critical need for robust NuMT detection. Current methods to …
Read PDF<h4>Objective</h4>The aim of this study is to evaluate the efficacy of accurate circular consensus long-read sequencing in the detection of rare thalassemia.<h4>Methods</h4>Conventional molecular analysis on globin genes has limitations because of the broad spectrum of …
Read PDFOver half of presumed genetic disease cases remain undiagnosed following short-read exome sequencing (SR-ES) or genome sequencing (SR-GS). Long-read GS (LR-GS) shows promise for uncovering etiologies missed by SR genetic testing, particularly structural variants (SVs). …
Read PDFLong-read sequencing has enabled comprehensive exploration of human genome at an unprecedented scale, particularly enhancing our understanding of structural variants (SVs). Phasing, a powerful approach for assigning haplotypes to sequencing reads, enables the generation of …
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