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Background Cervical cancer remains a major cause of death among women in Kenya and is primarily driven by persistent infection with high-risk human papillomavirus (HR-HPV). HIV infection increases the burden of the disease, as it …
Read PDFThe genetic diversity of Human Papillomavirus (HPV) poses challenges for molecular detection and genotyping, particularly in regions with distinctive circulating variants such as South America. This study aimed to quantitatively characterize HPV genomic variability using …
Read PDFThis study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) of small fibroblast cell groups, which mimics the limited cell quantities typical of trophectoderm embryo biopsies. PTA’s consistent amplification reduces allelic dropout (ADO) …
Read PDFPathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5' splice site variant, …
Read PDFGenome-wide association studies with identification of biologically relevant genes rely on correct mapping of sequence variation. Here, we re-analysed RADseq data from two migration types of brown trout (<i>Salmo trutta</i>) from Koutajoki and Oulujoki watersheds …
Read PDFMolecular methods in clinical and research applications frequently encounter complex mixtures of human and microbial DNA, sometimes alongside environmental or reagent contaminants. In metagenomic studies, the presence of host contamination poses a significant challenge, reducing …
Read PDFInherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and …
Read PDF<h4>Research objective</h4>Young-onset Parkinson's disease (YOPD), defined by symptom onset at or before 50 years of age, has a strong genetic component. The mutation spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a …
Read PDF<b>The aim of the study</b> was to estimate the efficiency of identifying bacterial agents in native cardiac valves affected by infective endocarditis using 16S rRNA metabarcoding.<h4>Materials and methods</h4>The study material involved 20 native cardiac valve …
Read PDF<h4>Background</h4>Uveal melanoma (UVM) is the most common primary intraocular malignancy in adults and exhibits a high propensity for liver metastasis, often leading to poor prognosis. However, effective prognostic biomarkers and therapeutic strategies for metastatic UVM …
Read PDFThe escalating global threat of multidrug-resistant (MDR) <i>Pseudomonas aeruginosa</i>, designated by the WHO as a critical-priority pathogen, necessitates urgent development of alternative therapeutics. We present <i>Pseudomonas</i> phage Arefeen1, isolated from Bangladeshi wastewater, as a clinically …
Read PDF<h4>Background</h4>CRISPR-based genetic screening has become a central methodology in functional genomics, enabling systematic interrogation of gene function, genetic interactions and context-dependent vulnerabilities at scale. However, the rapid expansion of screening modalities-including multi-condition designs, combinatorial perturbations, …
Read PDF[This corrects the article DOI: 10.1016/j.ekir.2025.06.017.].
Read PDF<h4>Purpose</h4>HER2DX is a validated genomic assay used to support treatment decisions in early-stage HER2-positive (HER2+) breast cancer. It provides three scores: relapse risk, likelihood of pathologic complete response (pCR), and ERBB2 mRNA expression. This study …
Read PDF<h4>Motivation</h4>The world of agriculture is rapidly changing with advances in artificial intelligence and demands for greater feed and food security considering environmental and sustainability challenges. The 30th Conference on Intelligent Systems in Molecular Biology (ISMB) …
Read PDFPolycystic ovary syndrome (PCOS) is one of the most prevalent and heterogeneous disorders in reproductive endocrinology, contributing to substantial reproductive, metabolic, and psychological morbidity. Despite major advances in genomics, neuroendocrinology, and systems biology, translation into …
Read PDFPharmacogenomic (PGx) information has the potential to support the safe and effective use of medicines, yet there is uncertainty about how this information can be best communicated to patients. Summaries of product characteristics (SmPCs) and …
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