Etiqueta: JMolDiagn
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Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants.
A custom Genexus myeloid assay (CMA) underwent a technical evaluation for detection of variants from both DNA and RNA in a single assay format. The custom assay was initially verified with commercial DNA and RNA controls containing known myeloid varian…
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Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a qPCR-Based Assay
Despite the clinical importance of CD4 testing for identifying advanced HIV disease, access to conventional flow cytometry remains limited in many settings. Epigenetic quantitative PCR (qPCR)–based immune cell quantification represents a molecular alte…
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Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification
Next-generation sequencing (NGS) is a first-tier test in molecular oncology, capable of detecting sequence variants (SVs) and copy number variants (CNVs). Although most amplicon-based gene panels are not designed to detect segmental chromosomal CNVs, t…
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Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a Real-Time Quantitative PCR–Based Assay
Despite the clinical importance of CD4 testing for identifying advanced HIV disease, access to conventional flow cytometry remains limited in many settings. Epigenetic real-time quantitative PCR (qPCR)-based immune cell quantification represents a mole…
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Segmental Copy Number Variant Detection Using an Amplicon-Based Next-Generation Sequencing Panel for Integrated Glioma Classification
Next-generation sequencing is a first-tier test in molecular oncology, capable of detecting sequence variants and copy number variants (CNVs). Although most amplicon-based gene panels are not designed to detect segmental chromosomal CNVs, they can stil…
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Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
Lung cancer is one of the most prevalent and lethal malignancies worldwide. Despite recent advancements in precision medicine, early detection and therapeutic monitoring of lung cancer remain challenging. Here, we present an Endonuclease-Assisted Selec…
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Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
The first national HPV-based cervical screening programs began in 2017. Since then, a growing list of countries have moved, or want to move, to HPV-based screening. One of the benefits of HPV-based screening is that a sample does not need to be collect…
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Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
Accurate detection of BRCA1 and BRCA2 variants is essential for breast cancer diagnosis. However, the large size of these genes poses challenges for comprehensive analysis using short-read sequencing, which is generally limited to coding regions and ma…