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Updated: Jan 7, 2026

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体細胞変異ランドスケープを明らかにするための二本鎖シーケンスアプローチのベンチマーキング

Yang Zhang^1,2, Vinayak V Viswanadham³, Michail Andreopoulos³

¹Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

bioRxiv : the preprint server for biology

|December 25, 2025

まとめ

本研究では、体細胞変異検出のための6つの二本鎖シーケンス技術をベンチマークした。変異率と変異シグネチャにおける高い一致が示され、スケーラブルな単一分子解析の基盤を提供する。

科学分野:

ゲノミクス
分子生物学
バイオインフォマティクス

背景:

シーケンスエラーと低いバリアントアレル頻度のために、正常組織における体細胞変異の検出は困難である。
二本鎖シーケンスはエラーを最小限に抑え、任意のアレル頻度でのバリアントを検出するが、クロスプラットフォームの比較が必要である。

主な方法:

6つの二本鎖シーケンス技術（CODEC、CompDuplex-seq、HiDEF-seq、NanoSeq、ppmSeq、VISTA-seq）のベンチマーキング。
臍帯血DNA、腫瘍-正常細胞株混合物、およびヒト組織ホモジネートを使用した性能評価。
超深度全ゲノムシーケンスとの統合。

結論:

本研究は、適切な二本鎖シーケンス方法の選択とそれらのデータの解釈のための基盤を提供する。
結果は、体細胞変異ランドスケープのスケーラブルな単一分子解析を可能にする。
高い一致は、体細胞変異検出のための二本鎖シーケンスの信頼性を示唆している。

キーワード:

二本鎖シーケンス体細胞変異ゲノミクス次世代シーケンシング変異検出単一分子解析

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