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From Long Reads to Precision Oncology: Recent Advances in Sequencing Technologies and their Emerging Role in Cancer Diagnostics

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  • Manan Chandra

Abstract

Recent advances in long-read sequencing technologies have significantly expanded the diagnostic capabilities of next-generation sequencing (NGS) in oncology. While short-read sequencing has enabled large-scale genomic profiling, it remains limited in resolving structural variants, gene fusions, and complex genomic rearrangements that characterize tumor genomes. Long-read platforms now enable improved detection of these features, along with direct analysis of epigenetic modifications and transcript isoforms. In this review, we present a comprehensive and integrated overview of long-read sequencing technologies within the context of cancer diagnostics, spanning the full NGS workflow from sample preparation and quality control to sequencing, demultiplexing, and clinical interpretation. We highlight key applications in structural variant detection, liquid biopsy, transcriptomics, and precision oncology, while critically examining current limitations and outlining future directions for clinical translation.

Suggested Citation

  • Manan Chandra, 2026. "From Long Reads to Precision Oncology: Recent Advances in Sequencing Technologies and their Emerging Role in Cancer Diagnostics," International Journal of Innovative Science and Research Technology (IJISRT), IJISRT Publication, vol. 11(05), pages 1505-1515, May.
    • Handle: RePEc:cvr:ijisrt:2026:05:ijisrt26may155
    DOI: https://doi.org/10.38124/ijisrt/26May155
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