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Characterization and mitigation of artifacts derived from NGS library preparation due to structure-specific sequences in the human genome

1 Mar 2024

Abstract excerpt

BACKGROUND: Hybridization capture-based targeted next generation sequencing (NGS) is gaining importance in routine cancer clinical practice. DNA library preparation is a fundamental step to produce high-quality sequencing data. Numerous unexpected, low variant allele frequency calls were observed in libraries using sonication fragmentation and enzymatic fragmentation. In this study, we investigated the...

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PMID: 38429743
DOI: 10.1186/s12864-024-10157-w

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