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Benchmarking Q40 sequencing for sensitive and efficient detection of rare genomic variants.

Genome biology - 12 Jun 2026

Duan Shumeng, Liu Yaqing, Guo Xiaorou, An Zhiyin, Ma Ruiwen, Chen Qiaochu, Xie Yanming, Chen Qingwang, Yu Ying, Dong Lianhua, Shi Leming, Zheng Yuanting

Abstract excerpt

BACKGROUND: Phred quality score (Q score) is critical for sequencing accuracy, yet the impact of Q40-achieving sequencing technologies (99.99% accuracy) on detecting subtle biological variations remains unvalidated. RESULTS: Using a comprehensive set of well-established DNA/RNA reference materials (Quartet, NIST-RM8398, SEQC2-HCC1395/BL, MAQC, and ERCC), we benchmarked Q40 sequencing (Element AVITI) against the...

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Identifiers

PMID: 42286715
DOI: 10.1186/s13059-026-04146-3
PMCID: PMC13483158

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