Article

Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq

2025-12-06

Abstract excerpt

Somatic mutations record tissue molecular history and inform risk, prognosis, and therapy, yet their variant allele fractions often fall below the reliable detection limit of conventional short-read sequencing. In contrast, duplex sequencing technology featured by NanoSeq applies the principle of single molecule detection and thereby overcomes the limitation. However, the original NanoSeq protocol relies on the re...

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Literature Corpus work: ebf03f76-d540-590c-a2bb-87859567b0f5
DOI: 10.64898/2025.12.05.692678

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