Etiqueta: JMolDiagn
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Genetic Landscape of Acute Leukemia of Ambiguous Lineage
Acute leukemias of ambiguous lineage (ALALs) are rare acute leukemias with poor prognosis, encompassing acute undifferentiated leukemia and mixed-phenotype acute leukemia. The fifth edition of the World Health Organization classification of hematolymph…
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Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
Genome sequencing is a commonly used platform for genetic disease research; however, most clinical laboratories use enrichment-based targeted sequencing for diagnostic panels and exome testing. To facilitate the implementation of clinical genome-based …
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Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
Genome sequencing is a commonly used platform for genetic disease research; however, most clinical laboratories use enrichment-based targeted sequencing for diagnostic panels and exome testing. To facilitate the implementation of clinical genome-based …
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Rapid On-Site Next-Generation Sequencing
Non–small cell lung cancer (NSCLC) and colorectal cancer (CRC) are malignancies with numerous actionable mutations. Accurate mutation identification is essential for targeted therapies, highlighting the need for next-generation sequencing (NGS). This s…
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Rapid On-Site Next-Generation Sequencing
Non–small cell lung cancer (NSCLC) and colorectal cancer (CRC) are malignancies with numerous actionable mutations. Accurate mutation identification is essential for targeted therapies, highlighting the need for next-generation sequencing (NGS). This s…
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Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus
RT-PCR is the gold standard to determine the etiology of respiratory tract viral infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza A, influenza B, and respiratory syncytial virus (RSV). Multiplex testing panel…
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Optimization of Pathologists’ Roles in Molecular Biomarker Testing in Metastatic Breast Cancer
More than 4 million women are living with breast cancer in the United States, with approximately 170,000 cases of metastatic breast cancer (mBC).1 Although the mortality rate has decreased by 44% between 1989 and 2022 because of advances in treatment a…
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Authors’ Reply
We appreciate the thoughtful engagement of Dalgleish et al regarding the interaction between Human Genome Variation Society (HGVS) Nomenclature and the file system constraints we outlined in our article.1 The authors correctly highlight that specific c…