Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions

Abstract excerpt

Postzygotic mosaicism gives rise to somatic structural variants (SVs) at ultra-low variant allele fractions (VAFs), which pose challenges for detection due to the high-coverage sequencing required and noise introduced by sequencing artifacts. Although somatic SV detection has been extensively studied in cancer, these studies are not directly applicable to the study of tissue mosaicism, as they rely on matched norm...

Topics

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• Algorithms
• Cell Line
• Genotype
• High-Throughput Nucleotide Sequencing
• INDEL Mutation
• Polymorphism, Single Nucleotide
• Reference Standards
• Sequence Analysis, DNA

Identifiers and source

Literature Corpus work

7660883a-21a8-547a-9bae-500135753a51

DOI

10.1101/2025.09.18.677206