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Section Highlights View all Bioinformatics and Genomics articles

Development of an immune-related gene signature applying Ridge method for improving immunotherapy responses and clinical outcomes in lung adenocarcinoma
"This study addresses an important challenge in lung adenocarcinoma (LUAD) treatment by developing an immune prognostic signature (IMMPS) based on tumor-infiltrating lymphocytes. The research methodology is systematic, employing multiple computational approaches and machine learning algorithms to analyze immune-related genes and their association with patient outcomes. The identification of two distinct immune subtypes in LUAD provides insights into patient stratification for immunotherapy. The seven-gene signature developed shows consistent prognostic value across multiple cohorts, with reasonable predictive performance (C-index > 0.69). The study validates its findings through experimental work, demonstrating the relationship between BTNL9 and the signature genes. The comparative analysis with existing gene signatures indicates the potential utility of this new prognostic tool. While the findings contribute to our understanding of LUAD's immunological characteristics, further validation in prospective clinical studies would be beneficial to confirm its practical application. This work provides a foundation for future research in personalizing immunotherapy approaches for LUAD patients, though additional investigation is needed to fully understand the molecular mechanisms underlying these prognostic markers."
Fanglin Guan, Handling Editor
Alleles of CYP3A5 and their association with renal function in chronic kidney disease
"This study contributes to our understanding of CYP3A5 polymorphisms in the northeastern Thai population and their potential influence on renal function. The investigation of genetic variations in CYP3A5, particularly the *3 allele, provides insights into population-specific genetic profiles that may affect drug metabolism and kidney disease progression. The findings suggest a connection between CYP3A5*3 and reduced renal parameters, which could be relevant for clinical practice, especially in the context of immunosuppressant therapy following kidney transplantation. While the study demonstrates associations between genetic variants and renal function markers, it also points to the need for additional research to elucidate the underlying mechanisms. The results may help inform the development of more tailored approaches to CKD management in Thai patients, considering their genetic background. However, the lack of significant differences in allele frequencies between CKD and control groups indicates that the relationship between CYP3A5 polymorphisms and kidney disease is complex and requires further investigation. This research represents a step toward understanding population-specific genetic factors in kidney disease, though larger studies across different populations would be needed to validate these findings."
Fanglin Guan, Section Editor
A prognostic glycolysis-related gene signature in osteosarcoma: implications for metabolic programming, immune microenvironment, and drug response
"This is a comprehensive manuscript that has implications for understanding the biological mechanism, pathophysiology and response to treatment of osteosarcoma with the potential for the development of therapeutics. It is relevant to basic science researchers and clinicians."
Katherine Mitsouras, Handling Editor
Genetic variations of the SHFL gene associated with hepatitis C virus (HCV) infection in Yunnan population
"This study addresses a notable gap in understanding the relationship between SHFL gene variations and HCV infection. The research examines three SNPs in the SHFL gene using a substantial sample size of HCV patients and controls from the Yunnan population, providing insights into genetic risk factors for HCV infection. The identification of specific genotypes as risk factors (AT of rs77076061, AG of rs1979262, and CT of rs12611087) contributes to our understanding of genetic susceptibility to HCV infection. The study's investigation of RNA structure alterations due to these SNPs suggests potential mechanisms through which these genetic variations might influence HCV infection. While the research has some limitations, such as the focus on a single population and the absence of clear associations with disease progression, it represents a useful initial exploration of SHFL genetic variants in HCV infection. The findings could inform future research on genetic factors in HCV infection and potentially contribute to risk assessment strategies. However, additional studies across different populations and further functional validation would be needed to confirm and expand upon these results."
Fanglin Guan, Section Editor
Circular RNAs in endometriosis analyzed through RNA sequencing and bioinformatics for expression profile
"Circ RNA is a relatively new and exciting field."
Rodrigo Nunes-da-Fonseca, Handling Editor
DLEU2 facilitates bladder cancer progression through miR-103a-2-5p/SOS1 axis
"This study provides insights into the role of lncRNA DLEU2 in bladder cancer progression. While previous research has established DLEU2's involvement in various cancers, its specific function in bladder cancer remained unclear. The research systematically investigates the molecular mechanisms through which DLEU2 influences bladder cancer development, particularly focusing on the DLEU2/miR-103a-2-5p/SOS1 regulatory axis. The study employs multiple experimental approaches, including bioinformatics analysis of NCBI GEO database, molecular biology techniques, and functional assays to validate their findings. The identification of the DLEU2/miR-103a-2-5p/SOS1 axis adds to our understanding of bladder cancer pathogenesis and potentially contributes to the development of targeted therapies. The research demonstrates that DLEU2 promotes bladder cancer cell proliferation and migration through miR-103a-2-5p sponging and subsequent SOS1 regulation. While further validation studies may be needed, these findings suggest that DLEU2 could be considered as a potential therapeutic target. The study's methodological approach and findings contribute to the growing body of knowledge regarding the molecular mechanisms underlying bladder cancer progression."
Fanglin Guan, Handling Editor
A multi-center cross-sectional investigation of BRAF V600E mutation in Ameloblastoma
"The article includes a large sample size in an understudied population, thus contributing to the literature exploring the effect of BRAF mutations in ameloblastoma"
Renan de Souza, Handling Editor
Seasonal genetic variation and genetic structure of Spodoptera exigua in Liaoning Province, Northeast China: insights from 11 years of microsatellite data
"This study provides meaningful insights into the seasonal genetic variation and population structure of Spodoptera exigua in northern China, addressing a notable research gap in understanding this agricultural pest's population dynamics. The research employs microsatellite analysis over a substantial time period (2012-2018), which strengthens the reliability of its findings. The identification of two distinct genetic groups and the observation of seasonal genetic subconstruction patterns contribute to our understanding of BAW migration patterns. These findings have practical implications for pest management, as understanding genetic variation and population structure can inform the development of control strategies. The methodology used is appropriate for the research objectives, and the results are presented with suitable analytical depth. While the study is geographically limited to Northeast China, its approach and findings may be applicable to BAW research in other regions. The research demonstrates a clear connection between basic population genetics research and its practical applications in agricultural pest management, making it a useful addition to the existing literature on migratory pest populations."
Fanglin Guan, Section Editor
A comprehensive prognostic and immunological analysis of hexokinase domain containing protein-1 (HKDC1) in pan-cancer
"This paper demonstrates that the expression level of hexokinase domain-containing protein 1 (HKDC1) is involved in cancer prognosis, providing important insights into HKDC1-targeted cancer therapy."
Tokuko Haraguchi, Handling Editor
Mining of co-expression genes in response to cold stress at maize (Zea mays L.) germination and sprouting stages by weighted gene co-expression networks analysis
"This study addresses a agricultural challenge by investigating low-temperature stress response in maize during critical growth stages. The research combines transcriptome sequencing with weighted gene co-expression network analysis to understand gene expression patterns between temperature-tolerant and sensitive maize lines. The methodology is systematic, employing multiple analysis approaches including WGCNA, GO, and KEGG pathway analysis. The identification of specific gene modules and pathways associated with low-temperature tolerance provides insights into the molecular mechanisms of cold stress response. The study's findings, particularly the validation of seven genes involved in low-temperature stress response, contribute to the existing knowledge base in crop stress biology. While the research is focused on maize, the methodological framework and findings may be applicable to understanding cold tolerance in other crops. The study has practical implications for crop improvement programs, especially in regions where early spring low temperatures affect maize production. However, additional research would be needed to validate these findings in field conditions and to determine the practical applications in breeding programs. The study represents a step forward in understanding cold tolerance mechanisms, though further work is required to fully utilize these insights in agricultural applications."
Fanglin Guan, Section Editor
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