CA2894317C - 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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CA2894317C
CA2894317C CA2894317A CA2894317A CA2894317C CA 2894317 C CA2894317 C CA 2894317C CA 2894317 A CA2894317 A CA 2894317A CA 2894317 A CA2894317 A CA 2894317A CA 2894317 C CA2894317 C CA 2894317C
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condition
specific
sequence
dna
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CA2894317A1 (fr
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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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Deep Genomics Inc
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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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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • 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
    • G16B5/20—Probabilistic models

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  • Engineering & Computer Science (AREA)
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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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US20200234137A1 (en) * 2017-08-18 2020-07-23 Intel Corporation Efficient neural networks with elaborate matrix structures in machine learning environments
KR102416048B1 (ko) * 2017-10-16 2022-07-04 일루미나, 인코포레이티드 변이체 분류를 위한 심층 컨볼루션 신경망
SG11201912745WA (en) 2017-10-16 2020-01-30 Illumina Inc Deep learning-based splice site classification
US11861491B2 (en) 2017-10-16 2024-01-02 Illumina, Inc. Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
WO2019136376A1 (fr) 2018-01-08 2019-07-11 Illumina, Inc. Séquençage à haut débit à détection à semi-conducteur
KR102239487B1 (ko) 2018-01-08 2021-04-14 일루미나, 인코포레이티드 반도체-기반 검출을 사용한 고-처리율 서열분석
AU2019206709B2 (en) * 2018-01-15 2021-09-09 Illumina Cambridge Limited Deep learning-based variant classifier
CN108680861B (zh) * 2018-03-05 2021-01-01 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
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
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
WO2019222120A1 (fr) * 2018-05-14 2019-11-21 Quantum-Si Incorporated Ensemble polymère biologique activé par apprentissage automatique
WO2020041204A1 (fr) 2018-08-18 2020-02-27 Sf17 Therapeutics, Inc. Analyse d'intelligence artificielle de transcriptome d'arn pour la découverte de médicament
US11443832B2 (en) 2019-03-07 2022-09-13 Nvidia Corporation Genetic mutation detection using deep learning
US11842794B2 (en) 2019-03-19 2023-12-12 The University Of Hong Kong Variant calling in single molecule sequencing using a convolutional neural network
US11347965B2 (en) 2019-03-21 2022-05-31 Illumina, Inc. Training data generation for artificial intelligence-based sequencing
US11210554B2 (en) 2019-03-21 2021-12-28 Illumina, Inc. Artificial intelligence-based generation of sequencing metadata
US11593649B2 (en) 2019-05-16 2023-02-28 Illumina, Inc. Base calling using convolutions
WO2021168353A2 (fr) 2020-02-20 2021-08-26 Illumina, Inc. Appel de base de plusieurs à plusieurs basé sur l'intelligence artificielle
US11830606B2 (en) * 2020-04-28 2023-11-28 Siemens Healthcare Gmbh Risk prediction for COVID-19 patient management
CN113810335B (zh) * 2020-06-12 2023-08-22 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
CN112017771B (zh) * 2020-08-31 2024-02-27 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
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CN114360652B (zh) * 2022-01-28 2023-04-28 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
CN116798521B (zh) * 2023-07-19 2024-02-23 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

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