Cancer is driven by a complex range of genetic alterations, from single-base mutations to large structural variants that can dramatically reshape the genome. While short-read sequencing has revolutionized cancer research and precision medicine, it has significant limitations when it comes to detecting many large-scale genomic changes, particularly in repetitive or highly complex regions.

This white paper explores how long-read sequencing is changing the landscape of precision oncology by providing a more complete view of cancer biology. Structural variants, including deletions, insertions, inversions, translocations, and complex rearrangements, are believed to account for a substantial proportion of cancer-driving mutations. However, many of these alterations remain difficult to detect with conventional sequencing approaches, leaving critical disease drivers undiscovered.