MX393603B - Entorno basado en el aprendizaje profundo para la identificacion de patrones de secuencia que provocan errores especificos de secuencia (ees) - Google Patents

Entorno basado en el aprendizaje profundo para la identificacion de patrones de secuencia que provocan errores especificos de secuencia (ees)

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Publication number
MX393603B
MX393603B MX2019015567A MX2019015567A MX393603B MX 393603 B MX393603 B MX 393603B MX 2019015567 A MX2019015567 A MX 2019015567A MX 2019015567 A MX2019015567 A MX 2019015567A MX 393603 B MX393603 B MX 393603B
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Mexico
Prior art keywords
variant
sequence
filter
sses
neural networks
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MX2019015567A
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English (en)
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MX2019015567A (es
Inventor
Amirali Kia
Dorna Kashefhaghighi
Kai-How FARH
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Illumina Inc
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Publication date
Priority claimed from NL2021473A external-priority patent/NL2021473B1/en
Priority claimed from US16/505,100 external-priority patent/US12073922B2/en
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of MX2019015567A publication Critical patent/MX2019015567A/es
Publication of MX393603B publication Critical patent/MX393603B/es

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    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
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    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
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    • G06N3/00Computing arrangements based on biological models
    • G06N3/02Neural networks
    • G06N3/04Architecture, e.g. interconnection topology
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06NCOMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00Computing arrangements based on biological models
    • G06N3/02Neural networks
    • G06N3/04Architecture, e.g. interconnection topology
    • G06N3/045Combinations of networks
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06NCOMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00Computing arrangements based on biological models
    • G06N3/02Neural networks
    • G06N3/04Architecture, e.g. interconnection topology
    • G06N3/0464Convolutional networks [CNN, ConvNet]
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    • G06N3/082Learning methods modifying the architecture, e.g. adding, deleting or silencing nodes or connections
    • GPHYSICS
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    • G06N3/02Neural networks
    • G06N3/08Learning methods
    • G06N3/084Backpropagation, e.g. using gradient descent
    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
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    • GPHYSICS
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    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
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    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
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    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20Supervised data analysis
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
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Abstract

La tecnología divulgada presenta un entorno basado en el aprendizaje profundo que identifica patrones de secuencia que causan errores específicos de secuencia (EES). Los sistemas y métodos entrenan un filtro de variantes con base en los datos de variantes a gran escala para reconocer dependencias causales entre los patrones de secuencia y las detecciones de variantes falsas. El filtro de variantes tiene una estructura jerárquica basada en redes neuronales profundas, como redes neuronales convolucionales y redes neuronales completamente conectadas. Los sistemas y métodos ejecutan una simulación que utiliza el filtro de variantes para evaluar el efecto de los patrones de secuencia conocidos en el filtrado de variantes. La premisa de la simulación es la siguiente: cuando un par de un patrón de repetición bajo evaluación y una variante detectada se alimentan al filtro de variantes como parte de una secuencia de entrada simulada y el filtro de variantes clasifica a la variante detectada como una detección de variante falsa, entonces se considera que el patrón de repetición ha causado la detección de variante falsa y lo identifica como causante de un EES.
MX2019015567A 2018-07-11 2019-07-09 Entorno basado en el aprendizaje profundo para la identificacion de patrones de secuencia que provocan errores especificos de secuencia (ees) MX393603B (es)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201862696699P 2018-07-11 2018-07-11
NL2021473A NL2021473B1 (en) 2018-07-11 2018-08-16 DEEP LEARNING-BASED FRAMEWORK FOR IDENTIFYING SEQUENCE PATTERNS THAT CAUSE SEQUENCE-SPECIFIC ERRORS (SSEs)
US16/505,100 US12073922B2 (en) 2018-07-11 2019-07-08 Deep learning-based framework for identifying sequence patterns that cause sequence-specific errors (SSEs)
PCT/US2019/041078 WO2020014280A1 (en) 2018-07-11 2019-07-09 DEEP LEARNING-BASED FRAMEWORK FOR IDENTIFYING SEQUENCE PATTERNS THAT CAUSE SEQUENCE-SPECIFIC ERRORS (SSEs)

Publications (2)

Publication Number Publication Date
MX2019015567A MX2019015567A (es) 2020-07-28
MX393603B true MX393603B (es) 2025-03-24

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MX2019015567A MX393603B (es) 2018-07-11 2019-07-09 Entorno basado en el aprendizaje profundo para la identificacion de patrones de secuencia que provocan errores especificos de secuencia (ees)
MX2022008257A MX2022008257A (es) 2018-07-11 2019-12-18 Entorno basado en el aprendizaje profundo para la identificacion de patrones de secuencia que provocan errores especificos de secuencia (ees).

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EP (1) EP3619712B1 (es)
JP (1) JP6785995B2 (es)
KR (3) KR102447812B1 (es)
CN (2) CN118673964A (es)
AU (2) AU2019272065C1 (es)
BR (1) BR112019027637A2 (es)
CA (1) CA3064226C (es)
IL (3) IL296738B2 (es)
MX (2) MX393603B (es)
MY (1) MY204816A (es)
NZ (1) NZ759884A (es)
RU (1) RU2745733C1 (es)
SG (1) SG11201912766VA (es)
ZA (1) ZA201908149B (es)

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CN111832717B (zh) * 2020-06-24 2021-09-28 上海西井信息科技有限公司 芯片及用于卷积计算的处理装置
AU2021327765B2 (en) * 2020-08-21 2025-01-02 Regeneron Pharmaceuticals, Inc. Methods and systems for sequence generation and prediction
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CN113642826B (zh) * 2021-06-02 2024-06-11 中国海洋大学 一种供应商违约风险预测方法
CN113781551B (zh) * 2021-09-06 2023-10-31 中南民族大学 基于视觉感知的茶园植物状态监测管理系统及其方法
CN113656333B (zh) * 2021-10-20 2022-03-18 之江实验室 一种加速深度学习训练任务数据载入的方法
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CN114510993B (zh) * 2021-12-28 2025-04-18 西安理工大学 基于sa-gru的高速列车节能驾驶策略
CN114078073B (zh) * 2022-01-20 2022-04-08 广州南方学院 一种基于光场转换的抗led再生拷贝方法及系统
CN116131979A (zh) * 2022-06-08 2023-05-16 上海前瞻创新研究院有限公司 受远程干扰的无线信道预测方法及系统、存储介质及终端
CN119948569A (zh) * 2022-07-06 2025-05-06 上海芯像生物科技有限公司 用于利用机器学习来增强高通量测序过程中的核酸测序质量的方法和系统
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AU2021203538B2 (en) 2023-07-06
MY204816A (en) 2024-09-17
CA3064226C (en) 2023-09-19
IL288276B (en) 2022-10-01
IL271213B (en) 2021-12-01
IL296738A (en) 2022-11-01
IL288276B2 (en) 2023-02-01
MX2022008257A (es) 2022-08-04
ZA201908149B (en) 2022-07-27
CN118673964A (zh) 2024-09-20
KR102447812B1 (ko) 2022-09-27
CN110892484B (zh) 2024-05-28
BR112019027637A2 (pt) 2020-07-07
KR102371706B1 (ko) 2022-03-08
AU2019272065A1 (en) 2020-01-30
EP3619712A1 (en) 2020-03-11
EP3619712B1 (en) 2024-02-14
IL296738B1 (en) 2025-03-01
KR20200011446A (ko) 2020-02-03
KR102628141B1 (ko) 2024-01-23
MX2019015567A (es) 2020-07-28
AU2021203538A1 (en) 2021-07-01
IL271213A (en) 2020-01-30
KR20220136462A (ko) 2022-10-07
EP3619712C0 (en) 2024-02-14
CA3064226A1 (en) 2020-01-11
SG11201912766VA (en) 2020-02-27
RU2745733C1 (ru) 2021-03-31
KR20220034923A (ko) 2022-03-18
IL296738B2 (en) 2025-07-01
AU2019272065C1 (en) 2021-09-30
NZ759884A (en) 2023-01-27
AU2019272065B2 (en) 2021-03-04
CN110892484A (zh) 2020-03-17
JP2020529644A (ja) 2020-10-08
IL288276A (en) 2022-01-01
JP6785995B2 (ja) 2020-11-18

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