Categoría: The Journal of Molecular Diagnostics
-
Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal Tumors
Optical genome mapping (OGM) enables high-resolution detection of structural variants (SVs) and copy number aberrations (CNAs) using ultra-long DNA molecules and minimal bioinformatics processing. Its diagnostic utility in solid tumors remains underexp…
-
Prediction of lung metastasis in breast cancer patients using machine learning classifiers
Breast cancer is the most common cancer among women, and metastasis to the lung is associated with poor prognosis. Reliable biomarkers for predicting lung metastasis are urgently needed to improve early detection and clinical decision-making. This stud…
-
Functional analysis of four splice site variants, including a novel variant, on antigen expression and ABO subgroup formation
Splice site variants within the ABO gene have the potential to impair ABO glycosyltransferase biosynthesis, leading to decreased expression of A or B antigens on the surface of red blood cells. This study characterized how four intron 6 splice site var…
-
A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy
Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions (indels), SMN1 2+0 silent carrier, and the copy number (CN) of SMN2. To addr…
-
Updates on the clinical epidemiology of HIV-1 group O strains in Cameroon and potential implications on diagnosis and treatment strategies
Cameroon is an epicentre of diverse HIV-1 strains, with challenges in diagnosis and disease management. The objective herein was to update the prevalence of HIV-1 non-M and compare diagnostic-performance of the 2-test vs. 3-test algorithms. A facility-…
-
Enhanced Comprehension of the Pathogenicity of Splicing Variants
Despite the availability of various in silico prediction tools, accurately assessing the pathogenicity of splice-region variants remains limited. In this study, 18 splice-region variants of uncertain significance (VUSs) were functionally characterized …
-
A Targeted LC-MS/MS–Based Quantitative Assay for Detecting Plasma Factor XIII A/B Subunit Deficiency
Factor XIII (FXIII) is a heterotetramer that plays a crucial role in the coagulation cascade, facilitating fibrin crosslinking to stabilize clots. Congenital or acquired deficiency of the FXIII A or B subunits can lead to prolonged bleeding. Existing e…
-
Clinical Performance of Tissue- and Plasma-Based Diagnostic Assays in Identifying Homologous Recombination Repair Gene Alterations in Patients with Metastatic Castration-Resistant Prostate Cancer following Treatment with Niraparib with Abiraterone Acetate Plus Prednisone
This retrospective study was designed to demonstrate the clinical utility of two diagnostic tests, the FoundationOneCDx (F1CDx) and Exact Sciences Resolution homologous recombination deficiency (HRD; Resolution HRD assay) as clinical trial–enrollment a…
-
Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis
Fragile X syndrome (FXS) is the most common cause of intellectual disability. It is usually caused by the expansion of the CGG trinucleotide repeat (>200 repeats) in FMR1, resulting in DNA hypermethylation and gene silencing. Conventional FXS diagnosis…
-
Comparative Analysis of TP53-Mutated Tumor DNA in Saliva and Plasma of Patients with Head and Neck Squamous Cell Carcinoma
Liquid biopsy offers a promising noninvasive alternative for tissue sampling in solid cancers. Saliva, an easily accessible biofluid, can harbor tumor DNA, yet its clinical utility compared with plasma circulating tumor DNA (ctDNA) in head and neck squ…