LabMed, Volume 2, Issue 4 (December 2025) – 2 articles

Acute respiratory infections (ARIs) continue to pose a major global health threat, particularly among vulnerable populations. These infections often present with similar clinical symptoms, complicating accurate diagnosis and facilitating unmonitored transmissions. Genomic surveillance has emerged as an invaluable tool for pathogen identification and monitoring of such infectious pathogens; however, its implementation is frequently limited by high costs. The widespread use of high-throughput sequencing during the COVID-19 pandemic has created an opportunity to repurpose existing genomic platforms for broader respiratory virus surveillance. In this study, we evaluated the feasibility of adapting the Illumina COVIDSeq assay—initially designed for SARS-CoV-2 whole-genome sequencing—for use with Influenza A/B, Respiratory Syncytial Virus (RSV), and Rhinovirus. Positive control samples were processed using two approaches for library preparation: four virus-specific multiple workflows and a combined rapid workflow. Both workflows incorporated pathogen-specific primers for amplification and followed the Illumina COVIDSeq protocol for library preparation and sequencing. Sequencing quality metrics were analysed, including Phred scores, read length distribution, and coverage depth. The study did not identify significant differences in genome coverage and genetic diversity metrics between workflows. Genome Detective consistently identified the correct species across both methods. The findings of this study demonstrate that the COVIDSeq assay can be effectively adapted for multi-pathogen genomic surveillance and that the combined rapid workflow can offer a cost- and labour-efficient alternative with minimal compromise to data quality. Full article

Atrial fibrillation (AF), the most prevalent cardiac arrhythmia, significantly elevates the risk of stroke and heart failure. The etiology of AF is complex and multifactorial, involving genetic predisposition, environmental risk factors, and their potential interactions. A previous genome-wide association study (GWAS) of AF in a Korean population has identified an association between the rs3737883 single-nucleotide polymorphism (SNP) in the PPFIA4 gene and an increased risk of AF. However, the association needs to be replicated in other populations. In this paper, we conducted a case–control association study including 724 AF cases and 1475 controls, and successfully validated the association between SNP rs3737883 with the risk of AF in a Chinese population (OR = 1.33 with an adjusted p was 2.83 × 10⁻¹¹). Given that the PPFIA4 variant has been reported to influence high-sensitivity cardiac troponin T (hs-cTnT) levels, we further investigated the relationship between rs3737883 and hs-cTnT in 48 AF patients. Notably, we observed that the risk allele was also associated with elevated hs-cTnT levels. Our findings provide further genetic substantiation for the association of rs3737883 with AF. These results suggest a potential association between the PPFIA4 gene variant, hs-cTnT levels, and AF risk, although further studies are needed to clarify the underlying mechanisms. Full article