Etiqueta: JMolDiagn
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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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Health care impact of comprehensive genomic profiling of solid tumors in patient management using POWER (Precision Oncology at Western University)
Molecular profiling of solid tumors is increasingly essential in oncology practice, guiding diagnosis-prognosis and providing patients with access to molecularly matched therapies that can improve outcomes. In this study, we evaluated 554 patients with…
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Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders
Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders (TBDs) and carry diagnostic and prognostic significance. Detection of these variants is challenging due to low variant allele frequencies (VAFs) …
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Copy-Neutral Loss of Heterzygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays
Myelofibrosis (MF) is a hematologic malignancy with a highly heterogeneous clinical course. Copy-neutral loss of heterozygosity (CN-LOH) may contribute to disease progression by promoting mutation homozygosity. Although single-nucleotide polymorphism (…