Current Issue : January-March Volume : 2026 Issue Number : 1 Articles : 5 Articles
Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets. Trio-based analysis, leveraging Mendelian inheritance, provides an alternative strategy for validating sequencing results and estimating error rates, particularly in regulatory genomic regions. Methods. We extended the nf-core/sarek WGS pipeline by integrating a module that collects parental and offspring allele information, extracts regulatory genomic regions, and computes Mendelian-consistency scores. The algorithm processes variant calls from parents and children to identify expected versus anomalous inheritance patterns. The module was implemented in C++ and integrated into the Nextflow workflow, supporting automated analysis of trio datasets. Results. The method was validated on two real trio datasets, comparing DeepVariant and HaplotypeCaller as variant callers. For both trios, DeepVariant consistently achieved higher sensitivity and precision, with statistically significant differences confirmed using 95% confidence intervals. These results demonstrate that the proposed approach enables effective benchmarking of variant-calling performance in non-benchmark datasets. Conclusions. The developed method provides a practical and scalable framework for quantifying WGS outcomes from trio data. By incorporating Mendelian-inheritance validation into existing pipelines, researchers can estimate sequencing error rates, compare variant callers, and optimize workflows in regulatory genomic regions. Our findings confirm the superior performance of DeepVariant over HaplotypeCaller for the studied datasets....
Hepatitis E virus (HEV) is one of the pathogens that cause viral hepatitis, and its clinical symptoms can manifest as acute, chronic viral hepatitis, or asymptomatic infection. Among them, swines are the main animal source of HEV. Open reading frame 3 (ORF3) is a multifunctional protein essential for swine hepatitis E virus (SHEV) infection and release, involved in biological processes such as intracellular signal transduction regulation. In our preliminary research, we utilized adenovirus-mediated overexpression of type IV SHEV ORF3 in HepG2 cells, extracted total RNA, and performed high-throughput long non coding RNAs (lncRNAs) and transcriptome sequencing. In this study, we screened and analyzed lncRNAs involved in the GO pathway: viral process (GO: 0016032), and combined them with differentially expressed mRNAs for target gene prediction. We identified two lncRNAs—lncRNA AL137002 (MSTRG. 7478) and lncRNA AL049840 (MSTRG. 8427)—that are associated with viral progression and have p ≤ 0.05 in HepG2 cells expressing ORF3 of porcine hepatitis E virus type IV. We predicted their five lncRNA-mRNA networks, which are lncRNA AL137002 (MSTRG. 7478)-ENST0000375440, lncRNA AL137002 (MSTRG. 7478)- ENST0000375441, lncRNA AL049840 (MSTRG. 8427)-ENST0000246489, lncRNA AL049840 (MSTRG. 8427)-ENST0000554280 and lncRNA AL049840 (MSTRG. 8427)-ENST0000452929, and were used to predict their lncRNA mRNA binding sites and construct relevant molecular models. This will lay a solid foundation for further revealing the function of SHEV ORF3 and elucidating the mechanism of SHEV infection....
Here, 18S-rDNA sequences of Blastocystis sp., previously documented from symptomatic (cases) and asymptomatic (controls) carriers, were analyzed to determine their population structure, predict their secondary structure, and examine their interactions with ribosomal proteins (Bud23, RPS5, and RPS18). Phylogenetic and population differentiation analyses were performed using STRUCTURE software V2.3.4. Moreover, an analysis of the rRNA secondary structure and folding of each sequence was performed, and their probability of interaction with ribosomal proteins was determined. Phylogenetic and haplotype analyses sorted the sequences into genetic subtypes ST1, ST2, and ST3, while the population structure showed each cluster as a differentiated subpopulation, suggesting incipient speciation or cryptic species differentiation. Furthermore, the analysis of the secondary structure of rRNA exhibited specific arrangements for each subtype. In addition, the probability of interaction between 18S-rRNA sequences of Blastocystis from cases and controls with RPS5 and RPS18 was significant, matching the biological plausibility of the previously documented finding that control isolates had a lower generation time than isolates obtained from cases. These findings reinforce the hypothesis that ribosomal subtypes ST1–ST3 of Blastocystis represent evolutionarily distinct lineages with the potential to be recognized as future species. Furthermore, they underscore the functional relevance of 18S-rRNA sequences from clinical isolates of Blastocystis....
Taeniasis and neurocysticercosis (NCC), caused by Taenia solium, are significant public health concerns recognised by the World Health Organization (WHO) in developing countries across the Americas, Asia, and Africa. Taeniasis occurs in humans after consuming undercooked pork containing the larval stage (Cysticerci), which matures into the adult reproductive form in the intestine, releasing eggs through faeces. Accidental ingestion of these eggs by humans is the primary cause of NCC, a principal contributor to acquired epilepsy in endemic regions. Interrupting this transmission cycle is crucial to reducing the incidence of human NCC and porcine cysticercosis, thereby underscoring the need for accurate diagnosis and timely treatment of taeniasis. Current diagnostic tests for taeniasis, including microscopy, serology, copro-DNA, and coproantigen assays, exhibit variability in sensitivity, reproducibility, cross-reactivity, and accessibility. To overcome these limitations, bioinformatics tools were integrated with recombinant DNA technology to identify protein sequences with immunological potential. These sequences were evaluated in silico and used to construct an expression system. Subsequently, the antigens were expressed in a eukaryotic system, yielding two purified recombinant protein variants of 21 and 30 kDa. Their purification validated viaWestern blotting of the molecular tag, paves the way for the development of a direct immunological assay for the specific detection of Taenia solium carriers....
(1) Background: IgA nephropathy (IgAN) is a leading cause of chronic kidney disease worldwide. Despite its prevalence, the molecular mechanisms of IgAN remain poorly understood, partly due to limited research scale. Identifying key genes involved in IgAN’s pathogenesis is critical for novel diagnostic and therapeutic strategies. (2) Methods: We identified differentially expressed genes (DEGs) by analyzing public datasets from the Gene Expression Omnibus. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses were performed to elucidate the biological roles of DEGs. Hub genes were screened using weighted gene co-expression network analysis combined with machine learning algorithms. Immune infiltration analysis was conducted to explore associations between hub genes and immune cell profiles. The hub genes were validated using receiver operating characteristic curves and area under the curve. (3) Results: We identified 165 DEGs associated with IgAN and revealed pathways such as IL-17 signaling and complement and coagulation cascades, and biological processes including response to xenobiotic stimuli. Four hub genes were screened: three downregulated (FOSB, SLC19A2, PER1) and one upregulated (SOX17). The AUC values for identifying IgAN in the training and testing set ranged from 0.956 to 0.995. Immune infiltration analysis indicated that hub gene expression correlated with immune cell abundance, suggesting their involvement in IgAN’s immune pathogenesis. (4) Conclusion: This study identifies FOSB, SLC19A2, PER1, and SOX17 as novel hub genes with high diagnostic accuracy for IgAN. These genes, linked to immune-related pathways such as IL-17 signaling and complement activation, offer promising targets for diagnostic development and therapeutic intervention, enhancing our understanding of IgAN’s molecular and immune mechanisms....
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