Etiqueta: JMolDiagn
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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 (…
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Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort
Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs we…
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Viral load preemptive monitoring in the post-transplant immunocompromised population
Cytomegalovirus (CMV), Epstein-Barr virus (EBV), BK virus, and adenovirus cause significant morbidity and mortality in immunocompromised individuals, especially in those undergoing solid organ and hematopoietic stem cell transplant. Quantitative viral …
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New Updates and Guidelines in T Cell Nomenclature Relevant to Molecular Pathology
Has the rapid evolution of immune profiling outpaced our current T cell nomenclature? Advances in immunologic and cellular profiling methods, particularly high-dimensional flow cytometry, single-cell RNA sequencing, and spatial profiling, have been cri…
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Technical validation and prospective clinical utility of optical genome mapping in acute leukemia workup: insights from 200 cases following deployment as a first-line diagnostic test in a tertiary care center
In November 2023, our Canadian tertiary care facility implemented optical genome mapping (OGM) as a first-line diagnostic test for adults with newly diagnosed acute leukemias. Here we report on the analytical performance and clinical utility of OGM alo…
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Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies
Inherited retinal dystrophies (IRDs) represent a diverse group of rare pathologies affecting vision with significant genetic and clinical variability. Clinical exome sequencing (CES) was performed on 143 families clinically diagnosed with IRDs. The obt…