Etiqueta: JMolDiagn
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Droplet Digital PCR and Quantitative RT-PCR Comparison for Circulating miR-371a-3p in Malignant Germ Cell Tumors
Previous work has shown that circulating miR-371a-3p has higher sensitivity and specificity than current biomarkers for malignant germ cell tumors (MGCTs). Herein, the performance of two methods commonly used to measure miR-371a-3p levels was compared:…
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Different States of Lung Allograft Injury Assessed by Plasma Donor-Derived and Total Cell-Free DNA
Lung allografts are susceptible to myriad injury types, including acute rejection (AR), infectious disease (ID), baseline lung allograft dysfunction (BLAD), and chronic lung allograft dysfunction (CLAD), that affect outcomes. Donor-derived cell-free DN…
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Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert
Multiplex extended respiratory panels capable of detecting and differentiating viral and bacterial causes of respiratory tract infections have advanced substantially; however, their clinical utility remains inconclusive.1 Due to ongoing cost and reimbu…
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High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach wa…
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High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with extensive allelic heterogeneity. Although RNA-based assays can increase sensitivity, their cost and complexity limit their routine use. A DNA-only tiered diagnostic approach wa…
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CORRECTION
In the article entitled, “Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data” (Volume 28, pages 39–52 of the January 2026 issue of The Journal of Molecular Diagnostics; https://doi.org/10.1016/…
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Long-read whole-transcriptome sequencing and selective gene panel profiling enable sensitive detection of fusion oncogenes in pediatric B-cell acute lymphoblastic leukemia
Long-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. While there are a variety of general-purpose fusion detection algorithms that use modern long-read sequen…
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Long-Read Whole-Transcriptome Sequencing and Selective Gene Panel Profiling Enable Sensitive Detection of Fusion Oncogenes in Pediatric B-Cell Acute Lymphoblastic Leukemia
Long-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. Although there is a variety of general-purpose fusion detection algorithms that use modern long-read sequ…