GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection

GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection

Abstract Accurate detection of low-frequency mutations is crucial for understanding viral evolution and tumorigenesis in humans, but is often confounded by technical artifacts introduced during library preparation and sequencing. We present GENOMICON-Seq, an end-to-end simulation tool that models bo...

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Bibliographic Details
Main Authors: Milan S. Stosic, Jean-Marc Costanzi, Ole Herman Ambur, Trine B. Rounge
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Simulation
Intrahost single nucleotide variants (iSNVs)
Somatic mutations
Single base substitution (SBS) mutational signature
Amplicon sequencing
Whole exome sequencing (WES)
Online Access:https://doi.org/10.1038/s41598-025-05267-8
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