WO2023197825A1 - Procédé de construction de modèle de dépistage précoce de plusieurs cancers et dispositif de détection - Google Patents

Procédé de construction de modèle de dépistage précoce de plusieurs cancers et dispositif de détection Download PDF

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WO2023197825A1
WO2023197825A1 PCT/CN2023/082118 CN2023082118W WO2023197825A1 WO 2023197825 A1 WO2023197825 A1 WO 2023197825A1 CN 2023082118 W CN2023082118 W CN 2023082118W WO 2023197825 A1 WO2023197825 A1 WO 2023197825A1
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cancer
model
feature
reads
feature set
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PCT/CN2023/082118
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Chinese (zh)
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邵阳
吴雪
包华
刘睿
吴舒雨
唐皖湘夫
杨珊珊
刘思思
孟齐
王婷婷
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南京世和基因生物技术股份有限公司
南京世和医疗器械有限公司
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Publication of WO2023197825A1 publication Critical patent/WO2023197825A1/fr

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    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
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    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • G16H50/00ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/30ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
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Abstract

La présente invention concerne un procédé précoce de détection et de prédiction de plusieurs cancers (cancer du poumon, cancer de l'intestin et cancer du foie), un dispositif de détection et un support lisible par ordinateur. La présente invention consiste : à réaliser un séquençage passe-bas WGS sur des échantillons de plasma de cfDNA ; à utiliser un résultat de séquençage à haut débit pour analyser cinq caractéristiques discriminatives de fragments de cfDNA de cancers, qui comprennent une distribution de la couverture de la longueur de fragments à l'échelle du génome, une distribution de la longueur de fragments sur les bras longs et courts des chromosomes, une séquence de point de rupture de fragments, une séquence d'extrémité de fragments 5' et une variation du nombre de copies de fragments dans une fenêtre de 1 MB ; puis à utiliser un modèle linéaire généralisé, une machine d'amplification de gradient, une forêt aléatoire, un algorithme d'apprentissage profond et un algorithme d'amplification de gradient extrême pour effectuer respectivement une modélisation d'apprentissage ; et à utiliser ensuite le modèle linéaire généralisé pour effectuer un apprentissage d'ensemble secondaire pour construire un modèle d'intégration multi-algorithme et multi-caractéristiques. L'invention permet de réaliser une détection précoce, précise, non invasive, à faible profondeur, à spécificité élevée et à haute sensibilité et de détecter l'origine tissulaire de plusieurs cancers.
PCT/CN2023/082118 2022-04-15 2023-03-17 Procédé de construction de modèle de dépistage précoce de plusieurs cancers et dispositif de détection WO2023197825A1 (fr)

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CN202210392412.9A CN114927213A (zh) 2022-04-15 2022-04-15 多癌种早筛模型构建方法以及检测装置
CN202210392412.9 2022-04-15

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114927213A (zh) * 2022-04-15 2022-08-19 南京世和基因生物技术股份有限公司 多癌种早筛模型构建方法以及检测装置
CN115595372B (zh) * 2022-12-16 2023-03-14 南京世和基因生物技术股份有限公司 一种血浆游离dna来源的甲基化检测方法、肺癌诊断标志物以及试剂盒
CN116153420B (zh) * 2023-04-24 2023-08-18 南京世和基因生物技术股份有限公司 基因标志物在恶性乳腺癌与良性乳腺结节的早筛中的应用和筛查模型的构建方法

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CN110706749A (zh) * 2019-09-10 2020-01-17 至本医疗科技(上海)有限公司 一种基于组织器官分化层次关系的癌症类型预测系统和方法
WO2021110987A1 (fr) * 2019-12-06 2021-06-10 Life & Soft Procédés et appareils permettant de diagnostiquer un cancer à partir d'acides nucléiques acellulaires
CN112941181A (zh) * 2017-06-07 2021-06-11 深圳市海普洛斯生物科技有限公司 检测受检者外周血中的cfDNA突变信息的方法
CN113903398A (zh) * 2021-09-08 2022-01-07 南京世和基因生物技术股份有限公司 肠癌早筛标志物、检测方法、检测装置以及计算机可读取介质
CA3189557A1 (fr) * 2020-08-05 2022-02-10 Inivata Ltd. Methode hautement sensible de detection d'adn de cancer dans un echantillon
CN114927213A (zh) * 2022-04-15 2022-08-19 南京世和基因生物技术股份有限公司 多癌种早筛模型构建方法以及检测装置

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* Cited by examiner, † Cited by third party
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TW202108774A (zh) * 2019-05-13 2021-03-01 美商格瑞爾公司 以模型為基礎之特徵化及分類
CN113436684B (zh) * 2021-07-02 2022-07-15 南昌大学 一种癌症分类和特征基因选择方法

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112941181A (zh) * 2017-06-07 2021-06-11 深圳市海普洛斯生物科技有限公司 检测受检者外周血中的cfDNA突变信息的方法
CN110706749A (zh) * 2019-09-10 2020-01-17 至本医疗科技(上海)有限公司 一种基于组织器官分化层次关系的癌症类型预测系统和方法
WO2021110987A1 (fr) * 2019-12-06 2021-06-10 Life & Soft Procédés et appareils permettant de diagnostiquer un cancer à partir d'acides nucléiques acellulaires
CA3189557A1 (fr) * 2020-08-05 2022-02-10 Inivata Ltd. Methode hautement sensible de detection d'adn de cancer dans un echantillon
CN113903398A (zh) * 2021-09-08 2022-01-07 南京世和基因生物技术股份有限公司 肠癌早筛标志物、检测方法、检测装置以及计算机可读取介质
CN114927213A (zh) * 2022-04-15 2022-08-19 南京世和基因生物技术股份有限公司 多癌种早筛模型构建方法以及检测装置

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