Tumor minimal residual focus detection method based on customization strategy

The invention provides a tiny residual focus detection method, which comprises the following steps of: preferentially selecting a mutation type with lower background noise in a personalized panel design stage, and classifying and constructing a specific background noise library by using a to-be-dete...

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Hauptverfasser: YANG CHUNHE, ZHAO JINGBO, HONG QIANG, ZHENG LIMOU, LUO JIEMIN, YANG SHUANG, GUO RUIJIAN, ZHENG FANGKE
Format: Patent
Sprache:chi ; eng
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Zusammenfassung:The invention provides a tiny residual focus detection method, which comprises the following steps of: preferentially selecting a mutation type with lower background noise in a personalized panel design stage, and classifying and constructing a specific background noise library by using a to-be-detected sample sequencing signal; more sensitive and accurate detection on mutation signals and sample tiny residual focus states is realized. Meanwhile, full exon sequencing provides enough mutation candidates for personalized panel design, the mutation selection number is flexible, and more tumor patient crowds needing minimal residual focus detection can be covered. 本发明提供了一种微小残留病灶检测方法,该方法通过在个性化panel设计阶段优先选取具有更低背景噪音的突变类型,同时利用待检测样本测序信号分类构建特异背景噪音库,实现了对突变信号及样本微小残留病灶状态更为灵敏和准确的检测。同时,全外显子测序为个性化panel设计提供足够的突变候选,且突变选取个数灵活,可以覆盖更多需要微小残留病灶检测的肿瘤患者人群。