Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools by Yu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, Yu-Bin Wang, Tzu-Mao Hung, Chien-Yu Chen, Pei-Lung Chen, Jacob Shujui Hsu

“…Abstract Background High-throughput sequencing has revolutionized genetic disorder diagnosis, but variant pathogenicity interpretation is still challenging. …”
Get full text

Mouse SPAG6L, a Key Cytoskeleton Modulator Essential for Male Germ Cell Development, Is Not Required for Sertoli Cell Function by Tao Li, Wei Li, Cheng Zheng, Jannette M. Dufour, William H. Walker, Shuiqiao Yuan, Zhibing Zhang

“…Even though the amino acid sequences of the two SPAG6 proteins are highly similar, the two proteins have different biological expression patterns in vivo. …”
Get full text

Exploration of the Binding Site of Arachidonic Acid in gp63 of <i>Leishmania mexicana</i> and in Orthologous Proteins in Clinically Important Parasites by Verónica Ivonne Hernández-Ramírez, Audifás-Salvador Matus-Meza, Norma Oviedo, Marco Antonio Magos-Castro, Carlos Osorio-Trujillo, Lizbeth Salazar-Villatoro, Luis Alejandro Constantino-Jonapa, Patricia Talamás-Rohana

“…Furthermore, COX activity was evaluated in commensal species such as <i>E. dispar</i> and during the encystment process of <i>E. invadens</i>.…”
Get full text

Comparison of spatial transcriptomics technologies using tumor cryosections by Anne Rademacher, Alik Huseynov, Michele Bortolomeazzi, Sina Jasmin Wille, Sabrina Schumacher, Pooja Sant, Denise Keitel, Konstantin Okonechnikov, David R. Ghasemi, Kristian W. Pajtler, Jan-Philipp Mallm, Karsten Rippe

“…Here, we compare four imaging-based approaches—RNAscope HiPlex, Molecular Cartography, Merscope, and Xenium—alongside Visium, a sequencing-based method. These technologies were employed to study cryosections of medulloblastoma with extensive nodularity (MBEN), a tumor chosen for its distinct microanatomical features. …”
Get full text

Lignans-rich extract of Schisandra chinensis prevent alcohol-associated liver disease by regulating the gut microbiota and tryptophan metabolism by Yan-Yu Chi, Jun-Yan Xiang, Hui-Min Li, Hao-Yu Shi, Ke Ning, Hongyu Xiang, Qiuhong Xie

“…This study employed a mouse model of ALD induced by chronic-binge ethanol feeding to evaluate the hepatoprotective effects of lignans-rich extract of S. chinensis (SCL) interventions at different doses. 16S rDNA sequencing and metabolomic analysis were used to investigate microbial and metabolite profiles in intestinal contents. …”
Get full text

DiscHAR: A Discrete Approach to Enhance Human Activity Recognition in Cyber Physical Systems: Smart Homes by Ishrat Fatima, Asma Ahmad Farhan, Maria Tamoor, Shafiq ur Rehman, Hisham Abdulrahman Alhulayyil, Fawaz Tariq

“…Evaluations on the OPP79, PAMAP2, and WISDM datasets show that our approach outperforms existing models, achieving 89% accuracy for OPP79, 93.24% for PAMAP2, and 100% for WISDM. …”
Get full text

Identification of key genes affecting intramuscular fat deposition in pigs using machine learning models by Yumei Shi, Yumei Shi, Xini Wang, Shaokang Chen, Yanhui Zhao, Yan Wang, Xihui Sheng, Xiaolong Qi, Lei Zhou, Yu Feng, Jianfeng Liu, Chuduan Wang, Kai Xing

“…Intramuscular fat (IMF) is an important indicator for evaluating meat quality. Transcriptome sequencing (RNA-seq) is widely used for the study of IMF deposition. …”
Get full text

Advancing the fight against tuberculosis: integrating innovation and public health in diagnosis, treatment, vaccine development, and implementation science by Ayman Elbehiry, Eman Marzouk, Husam M. Edrees, Riyad AlShaqi, Abousree T. Ellethy, Feras Alzaben, Sulaiman Anagreyyah, Ahmad Algarni, Khalid Almuhaydili, Ibrahim Alotaibi, Abdulrahman Albaqami, Khalid Alamri, Mai Ibrahem, Abdulaziz M. Almuzaini, Falih Dhahri, Akram Abu-Okail

“…This comprehensive review explores recent advancements in TB diagnostics, antimicrobial resistance (AMR surveillance), treatment strategies, and vaccine development. It critically evaluates cutting-edge technologies including CRISPR-based diagnostics, whole-genome sequencing, and digital adherence tools, alongside therapeutic innovations such as shorter multidrug-resistant TB regimens and host-directed therapies. …”
Get full text

Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother by Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Santiago Cadena-Ullauri, Elius Paz-Cruz, Rafael Tamayo-Trujillo, Aníbal Gaviria, Francisco Cevallos, Ana Karina Zambrano

“…Furthermore, next-generation sequencing (NGS) allows for a thorough investigation of cancer susceptibility genes. …”
Get full text

Genome-Wide Identification and Characterization of Heat Shock Proteins in the Stored-Product Pest <i>Rhyzopertha dominica</i> (Fabricius): Phylogenetic, Structural, and Stress-Indu... by Yueliang Bai, Yanzhu Xie, Junji Yao, Fangfang Zeng, Dianxuan Wang

“…Among them, DnaJ was the largest and the most diverse HSP family in <i>R. dominica</i>. Transcriptome sequencing and RT-qPCR were then used to evaluate HSP gene expression patterns under four storage-related stresses, following a series of bioassays. …”
Get full text

The gut microbiome: a vital link to hyperuricemia, gout and acute flares? by Wei Wang, Liping Wang, Jing Chen, Xinyi Yang, Qingyu Guo, Zhen Zhang, Jingjing Liang, Ping Gu, Jiaqing Shao

“…In addition, the gout group was further divided into intercritical gout and acute gout groups on the basis of the claim of joint pain and relevant clinical parameters. 16S rRNA sequencing was used to evaluate the microbiome composition of all the groups.ResultsA dramatic decreasing trend in microbial richness and diversity was observed in hyperuricemic patients compared with healthy controls. …”
Get full text

Genotyping methods and their contributions to the study of tuberculosis dynamic in Latin America by Yasmin Castillos de Ibrahim das Neves, Ana Julia Reis, Nathália Xavier Maio, Júlia Vianna, João Perdigão, Ivy Bastos Ramis, Pedro Eduardo Almeida da Silva, Andrea von Groll

“…Nonetheless, its application and the knowledge generated depend on the genetic marker evaluated and the detection technologies that have evolved over the years. …”
Get full text

Pediatric kidney transplant recipients are at an increased risk for dysbiosis by Gizem Yılmaz, Seha Saygılı, Ayşe Ağbaş, Esra Karabağ Yılmaz, Ahmet Variş, Nur Canpolat

“…The gut microbiota was assessed using 16S rRNA gene sequencing, with alpha and beta diversity, as well as all statistical analyses, conducted using the Phyloseq library in the R programming language. …”
Get full text

Validation of genetic risk scores for coronary artery disease, developed on European population samples, in Russian population by A. I. Ershova, A. N. Meshkov, V. A. Kutsenko, Yu. V. Vyatkin, A. V. Kiseleva, E. A. Sotnikova, A. S. Limonova, E. V. Garbuzova, G. A. Muromtseva, M. Zaicenoka, A. A. Zharikova, V. E. Ramensky, O. А. Belova, S. A. Rachkova, M. S. Pokrovskaya, S. A. Shalnova, S. A. Boytsov, O. M. Drapkina

“…Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives of the Russian population.Material and methods. …”
Get full text

Systematic Revision of the Genus <i>Charmus</i> Karsch, 1879 (Scorpiones: Buthidae), and Assessment of Its Phylogenetic Position Within Buthidae C. L. Koch, 1837 Using Ultraconserv... by Mihir Joshi, Shubhankar Deshpande, Sajiri Ukale, Gaurang Gowande, Julia Bilat, František Kovařík, Hélène Mottaz, František Šťáhlavský, Deshabhushan Bastawade, Lionel Monod, Shauri Sulakhe

“…Topological congruence and discrepancies between the phylogenies generated with Sanger sequences and the Ultraconserved Elements are commented on, and the reliability of these datasets when evaluating phylogenetic relationships at different hierarchical levels is further discussed.…”
Get full text

Feasibility of Bamboo Sawdust as Sustainable Alternative Substrate for <i>Auricularia heimuer</i> Cultivation by Ya-Hui Wang, Cong-Sheng Yan, Yong-Jin Deng, Zheng-Fu Zhu, Hua-An Sun, Hui-Ping Li, Hong-Yuan Zhao, Guo-Qing Li

“…This study systematically evaluated the effects of bamboo sawdust substitutions (20%, 30%, 40%, and 50%) on mycelial growth, fruiting body development, and nutritional quality of <i>Auricularia heimuer</i>, while elucidating the underlying molecular mechanisms through transcriptome sequencing. …”
Get full text

Thrombopoietin Secretion by Human Ovarian Cancer Cells by Samaher Besbes, Shahid Shah, Iman Al-dybiat, Shahsoltan Mirshahi, Helene Helfer, Haythem Najah, Caroline Fourgeaud, Marc Pocard, Ibtissem Ghedira, Jeannette Soria, Massoud Mirshahi

“…TPO content of cell extract as well as plasma of a patient with ovarian cancer was evaluated by ELISA. The functionality of TPO was performed in coculture on the basis of the viability of a TPO-dependent cell line (Ba/F3), MTT assay, and Annexin-V labeling. …”
Get full text

Genetic Diversity and Structure of a Critically Endangered Ornamental Species, <i>Rhododendron farinosum</i>, with Extremely Small Populations by Fengjuan Li, Linyuan Fan, Jingli Zhang, Wen Liu, Wei Li, Yongpeng Ma, Hong Ma

“…To unravel the reasons behind the endangerment of this species and provide guidance for the rational conservation of this species, this study obtained a large number of SNP loci by using double-digest restriction-site-associated DNA sequencing (ddRAD-seq) to evaluate the genetic diversity and genetic structure of <i>R. farinosum</i>, as well as to infer the population history of this species. …”
Get full text

Human papillomavirus and Its Association with Other Sexually Transmitted Coinfection among Sexually Active Women from the Northeast of Brazil by Ana Paula Almeida Cunha, Ilka Kassandra Pereira Belfort, Francisco Pedro Belfort Mendes, Gerusinete Rodrigues Bastos dos Santos, Lucas Henrique de Lima Costa, Pablo de Matos Monteiro, Renata Lemos Gaspar, Mariele Borges Ferreira, Alice de Sá Ferreira, Sally Cristina Moutinho Monteiro, Flávia Castello Branco Vidal

“…DNA-HPV positive samples were subjected to automated sequencing for genotyping. Results. Among the 353 women evaluated, 204 (57.8%) had HPV-DNA, of which 140 (68.6%) exhibited HPV/STIs, while 64 (31.4%) had the only HPV. …”
Get full text

Prevalence and genetic etiology of poly-cystic ovarian syndrome (PCOS) in Mauritania by Marieme Elwafi, Abdi Ahmed, Abdi Ahmed, Omar Akhouayri, Ahmed Zein, Ahmed Zein, Hamma Abdelkader, Roughaya Selman, Ahmed Houmeida

“…A genetic study used Sanger sequencing to search for six known SNPs in LHCGR (rs2293275), FSHR (rs6166), ESR1 (rs2234693), GnRHR (rs104893836), miR-126 (rs4636297), and miR-499 (rs3746444) among 8 familial PCOS cases and 3 sporadic patients. …”
Get full text