Automated, Accurate Reporting for NGS-Based Clonality Testing



May 16, 2023

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  • Oncotarget published this research paper on May 12, 2023 in Volume 14, entitled, “Development and implementation of an automated and highly accurate reporting process for NGS-based clonality testing" by researchers from the Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY; Department of Cancer Genetics and Genomics, Roswell Park Comprehensive Cancer Center, Buffalo, NY. DOI - Correspondence to - Sean T. Glenn - Abstract B and T cells undergo random recombination of the VH/DH/JH portions of the immunoglobulin loci (B cell) and T-cell receptors before becoming functional cells. When one V-J rearrangement is over-represented in a population of B or T cells indicating an origin from a single cell, this indicates a clonal process. Clonality aids in the diagnosis and monitoring of lymphoproliferative disorders and evaluation of disease recurrence. This study aimed to develop objective criteria, which can be automated, to classify B and T cell clonality results as positive (clonal), No evidence of clonality, or invalid (failed). Using clinical samples with “gold standard” clonality data obtained using PCR/CE testing, we ran NGS-based amplicon clonality assays and developed our own model for clonality reporting. To assess the performance of our model, we analyzed the NGS results across other published models. Our model for clonality calling using NGS-based technology increases the assay’s sensitivity, more accurately detecting clonality. In addition, we have built a computational pipeline to use our model to objectively call clonality in an automated fashion. Collectively the results outlined below will have a direct clinical impact by expediting the review and sign-out process for concise clonality reporting. Sign up for free Altmetric alerts about this article - Subscribe for free publication alerts from Oncotarget - Keywords - clonality, NGS, bioinformatics, molecular diagnostics, leukemia About Oncotarget Oncotarget is a primarily oncology-focused, peer-reviewed, open access journal. Papers are published continuously within yearly volumes in their final and complete form, and then quickly released to Pubmed. On September 15, 2022, Oncotarget was accepted again for indexing by MEDLINE. Oncotarget is now indexed by Medline/PubMed and PMC/PubMed. To learn more about Oncotarget, please visit and connect with us: SoundCloud - Facebook - Twitter - Instagram - YouTube - LinkedIn - Pinterest - Reddit - Media Contact MEDIA@IMPACTJOURNALS.COM 18009220957

    Analytical TechniquesAutomationCancer ResearchCell Science

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