Categoría: The Journal of Molecular Diagnostics
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Modular RNA-Sequencing Analytics for Exploratory Biomarker Discovery Using Public Data
Publicly available RNA-sequencing data provide a cost-effective springboard for biomarker discovery. However, heterogeneity across studies often complicates analysis. This study presents a modular analytics pipeline that combines publicly available dat…
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Modular RNA-Sequencing Analytics for Exploratory Biomarker Discovery Using Public Data
Publicly available RNA-sequencing data provide a cost-effective springboard for biomarker discovery. However, heterogeneity across studies often complicates analysis. This study presents a modular analytics pipeline that combines publicly available dat…
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Predicting Recurrence of Stage IA Lung Adenocarcinoma Using Circulating Tumor Cell–Free DNA Whole-Genome Mutational Signatures
Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality. Although for stage IA, LUAD surgery is often curative, recurrence rates remain significant. Liquid biopsy enables monitoring residual disease and predicts recurrence; howev…
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Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing
Cell-free total nucleic acid (cfTNA)–based liquid biopsy (LBx) offers a minimally invasive alternative to tissue-based next-generation sequencing (NGS). Most NGS-based LBx assays require several days for results. This study validated a rapid NGS-based …
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Laboratory Considerations for Reproductive Genetic Carrier Screening
The Australian Reproductive Genetic Carrier Screening Project, “Mackenzie’s Mission,” performed couple-based screening for 9107 reproductive couples for >1280 genes associated with severe autosomal and X-linked recessive disorders. It identified close …
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Laboratory Considerations for Reproductive Genetic Carrier Screening
The Australian Reproductive Genetic Carrier Screening Project, “Mackenzie’s Mission,” performed couple-based screening for 9107 reproductive couples for >1280 genes associated with severe autosomal and X-linked recessive disorders. It identified close …
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Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing
Cell-free total nucleic acid (cfTNA)–based liquid biopsy (LBx) offers a minimally invasive alternative to tissue-based next-generation sequencing (NGS). Most NGS-based LBx assays require several days for results. This study validated a rapid NGS-based …
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Predicting Recurrence of Stage IA Lung Adenocarcinoma Using Circulating Tumor Cell–Free DNA Whole-Genome Mutational Signatures
Lung adenocarcinoma (LUAD) remains a leading cause of cancer-related mortality. Although for stage IA, LUAD surgery is often curative, recurrence rates remain significant. Liquid biopsy enables monitoring residual disease and predicts recurrence; howev…