CA2894317A1 - Systemes et methodes de classement, priorisation et interpretation de variants genetiques et therapies employant un reseau neuronal profond - Google Patents

Systemes et methodes de classement, priorisation et interpretation de variants genetiques et therapies employant un reseau neuronal profond Download PDF

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CA2894317A1
CA2894317A1 CA2894317A CA2894317A CA2894317A1 CA 2894317 A1 CA2894317 A1 CA 2894317A1 CA 2894317 A CA2894317 A CA 2894317A CA 2894317 A CA2894317 A CA 2894317A CA 2894317 A1 CA2894317 A1 CA 2894317A1
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Brendan Frey
Michael K.K. Leung
Andrew Thomas Delong
Hui Yuan XIONG
Babak Alipanahi
Leo J. Lee
Hannes Bretschneider
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
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Abstract

Il est décrit des systèmes et procédés qui reçoivent, comme entrée, une séquence dacide désoxyribonucléique (ADN) ou dacide ribonucléique, extraient des caractéristiques, et appliquent des couches dunités de traitement afin de calculer au moins une variable de cellule propre à une condition, correspondant à des quantités cellulaires mesurées dans différentes conditions. Le système pourrait sappliquer à une séquence contenant une variante génétique, ainsi quà une séquence de référence correspondante, afin de déterminer jusquà quel point les variables de cellule propres à une condition changent en raison de la variante. Le changement dans les variables de cellule propres à une condition est utilisé pour calculer un score représentant jusquà quel point la variante est nuisible, pour classer le niveau de caractère nuisible dune variante, pour établir des variantes aux fins de traitement subséquent, et pour comparer une variante de test à des variantes délétères connues. En modifiant la variante ou les caractéristiques extraites pour intégrer les effets de modification dADN, de thérapie doligonucléotide, de thérapie de liaison de protéine dADN ou dacide ribonucléique, ou dautres thérapies, le système peut être utilisé pour déterminer sil est possible de réduire les effets nuisibles de la variante originale.
CA2894317A 2015-06-15 2015-06-15 Systemes et methodes de classement, priorisation et interpretation de variants genetiques et therapies employant un reseau neuronal profond Active CA2894317C (fr)

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CN108680861A (zh) * 2018-03-05 2018-10-19 北京航空航天大学 锂电池剩余循环寿命预测模型的构建方法及装置
WO2019033381A1 (fr) * 2017-08-18 2019-02-21 Intel Corporation Réseaux neuronaux efficaces à structures matricielles élaborées dans des environnements d'apprentissage automatique
WO2019079180A1 (fr) * 2017-10-16 2019-04-25 Illumina, Inc. Réseaux neuronaux à convolution profonde de classification de variants
WO2019140402A1 (fr) * 2018-01-15 2019-07-18 Illumina, Inc. Classificateur de variants basé sur un apprentissage profond
WO2019200338A1 (fr) * 2018-04-12 2019-10-17 Illumina, Inc. Classificateur de variantes basé sur des réseaux neuronaux profonds
NL2020861B1 (en) * 2018-04-12 2019-10-22 Illumina Inc Variant classifier based on deep neural networks
CN110362807A (zh) * 2018-03-26 2019-10-22 中国科学院信息工程研究所 基于自编码器的变体词识别方法及系统
WO2020181111A1 (fr) * 2019-03-07 2020-09-10 Nvidia Corporation Détection de mutation génétique à l'aide de l'apprentissage profond
CN112017771A (zh) * 2020-08-31 2020-12-01 吾征智能技术(北京)有限公司 一种基于精液常规检查数据的疾病预测模型的构建方法及系统
CN112437961A (zh) * 2018-05-14 2021-03-02 宽腾矽公司 机器学习使能的生物聚合物组装
CN113571183A (zh) * 2020-04-28 2021-10-29 西门子医疗有限公司 Covid-19患者管理的风险预测
CN113810335A (zh) * 2020-06-12 2021-12-17 武汉斗鱼鱼乐网络科技有限公司 一种识别目标ip的方法及系统、存储介质、设备
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CN114360652A (zh) * 2022-01-28 2022-04-15 深圳太力生物技术有限责任公司 细胞株相似性评价方法及相似细胞株培养基配方推荐方法
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US11515010B2 (en) 2021-04-15 2022-11-29 Illumina, Inc. Deep convolutional neural networks to predict variant pathogenicity using three-dimensional (3D) protein structures
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CN116798521A (zh) * 2023-07-19 2023-09-22 广东美赛尔细胞生物科技有限公司 免疫细胞培养控制系统的异常监测方法及系统
US11842794B2 (en) 2019-03-19 2023-12-12 The University Of Hong Kong Variant calling in single molecule sequencing using a convolutional neural network
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CN108229523A (zh) * 2017-04-13 2018-06-29 深圳市商汤科技有限公司 图像检测、神经网络训练方法、装置和电子设备
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CN110832596B (zh) * 2017-10-16 2021-03-26 因美纳有限公司 基于深度学习的深度卷积神经网络训练方法
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CN110362807A (zh) * 2018-03-26 2019-10-22 中国科学院信息工程研究所 基于自编码器的变体词识别方法及系统
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