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Section Highlights View all Bioinformatics and Genomics articles arrow right

Gene mapping and development of molecular markers for thousand-grain weight in rye based on bulked segregant analysis
"This work provides useful knowledge on the genetic control of thousand-grain weight in rye and provides practical KASP markers for breeding."
Yunfeng Xu, Handling Editor
Pan-cancer multi-omics profiling of OAS3 reveals its immunological and prognostic associations across human cancers
"This study presents a systematic assessment of OAS3, an enzyme traditionally associated with antiviral responses, in the context of cancer biology across multiple tumor types. By integrating multi-omics data and functional validation, the authors provide a detailed examination of OAS3 expression patterns, its correlation with clinical prognosis, and its involvement in key molecular pathways related to immune regulation and tumor progression. The analysis extends to the exploration of OAS3 mutations and their associations with various genomic features, thereby offering insights into its potential as a biomarker and therapeutic target in specific cancer contexts. The findings regarding OAS3's relationship with immune cell infiltration and immune checkpoints may have implications for understanding tumor-immune interactions. However, the study is primarily exploratory and based on bioinformatic analyses supported by limited experimental validation, which may restrict the immediate translational impact. Nonetheless, the work adds a nuanced perspective to the literature on cancer-associated immune regulators and may serve as a basis for further functional studies."
Fanglin Guan, Section Editor
A novel analysis workflow for simultaneous parsing prokaryotic and eukaryotic microbial genes from metagenomes
"This simple yet effective hybrid method advances comprehensive metagenomic analysis, reducing bias toward prokaryotes and enabling more accurate insights into complex microbial ecosystems."
Rodolfo García-Contreras, Handling Editor
Molecular characterization of early-stage multi-primary lung adenocarcinoma by transcriptome sequencing—a retrospective study
"The study demonstrates that sMP-LUAD and SP-LUAD can be differentiated by analyzing their gene expression profiles. Furthermore, DUOX1 is downregulated in SP-LUAD, distinguishing it from sMP-LUAD."
Hilal Ozdag, Handling Editor
Cholesterol and steroid synthesis pathways may be involved in the inhibition of osteosarcoma cell viability by calcium-sensing receptor antagonism
"For an exploratory molecular oncology study, it is meaningful, solid, and useful to the field. Some limitations that do not undermine scientific integrity and rigour. This study provides the first transcriptomic-level evidence that blocking the calcium-sensing receptor (CaSR) alters cholesterol and steroid biosynthesis pathways in osteosarcoma cells, revealing a previously unrecognized metabolic link between CaSR signaling and tumor cell viability. By identifying coordinated, stage-specific upregulation of multiple cholesterol-synthesis genes after CaSR antagonism, the work highlights cholesterol metabolism as a plausible mechanistic target and establishes CaSR antagonists as exploratory metabolic modulators with potential relevance for osteosarcoma therapy."
Sonia Oliveira, Handling Editor
The Nextflow nf-core/metatdenovo pipeline for reproducible annotation of metatranscriptomes, and more
"While metagenomic analysis pipelines gained lots of attention in recent years, metatranscriptome pipelines are still sparse. Hence, providing an analysis pipeline, that even follows the nf-core standards will be a valuable contribution to the field and will certainly be used by many researchers."
Daniel Fischer, Handling Editor
Genome-wide identification of calcium-dependent protein kinase (CDPK) family members in Phaseolus vulgaris L. and expression analysis during abiotic stresses
"This research is important as it may offer insights into climate change mediated responses in plants important for consumption, and genomic ways to potentially select for more stress resistant crops."
Barbara Langille, Handling Editor
Predicting the prognosis of hepatocellular carcinoma based on genes related to polyamine metabolism
"This manuscript presents a comprehensive analysis of polyamine metabolism-related genes (PMRGs) in hepatocellular carcinoma (HCC), utilizing both bulk and single-cell RNA sequencing datasets. The study identifies distinct molecular subtypes and constructs a prognostic risk model, integrating bioinformatics analyses with experimental validation. The identification of key genes such as G6PD, ADH4, S100A9, and AKR1B15, as well as the development of a nomogram for survival prediction, demonstrate a methodical approach that combines computational and laboratory techniques. The findings offer additional understanding of the heterogeneity of HCC and provide potential biomarkers that may inform future research on molecular subtyping and personalized treatment strategies. While the study addresses an area of ongoing interest and incorporates several well-established analytical methods, the novelty and translational potential remain to be further substantiated by larger-scale clinical validation. The work contributes to the growing body of knowledge regarding the molecular landscape of HCC and supports further investigation into polyamine metabolism as a potentially relevant pathway in the prognosis and treatment of this malignancy."
Fanglin Guan, Handling Editor
Expression characterization of the guanylate-binding protein gene family in breast cancer and its association with the immune microenvironment
"This article addresses an important aspect of breast cancer prognostic assessment by focusing on the involvement of guanylate-binding protein (GBP) genes and their association with the tumor immune microenvironment. The study employs a combination of bioinformatics approaches, including ssGSEA, WGCNA, and regression analyses, to construct a risk model based on GBP-related genes. The integration of immune infiltration analysis and experimental validation of DACT2 function in breast cancer cell lines provides additional biological context to the findings. While the methodology is comprehensive and the risk model appears to offer prognostic value, the novelty and clinical applicability of the results would benefit from further validation in independent cohorts and real-world clinical settings. The study presents a methodologically sound framework for exploring immune-related prognostic markers in breast cancer, which could contribute to improved risk stratification and potentially inform individualized treatment strategies, though its immediate translational impact may be limited at this stage."
Fanglin Guan, Handling Editor
BMP2 alterations in mucinous cystadenocarcinoma of the breast: insights from whole-exome sequencing
"The article presents a rare and understudied breast cancer subtype, and the integrative approach using whole exome sequencing (WES) and immunohistochemistry (IHC) provides valuable initial insights into its possible molecular pathogenesis. However, limited sample size (n=3) and lack of downstream functional analyses are limiting factors."
Mehmet Burak Ateş, Handling Editor
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