KR20230043072A - 변이체 병원성 채점 및 분류 그리고 이의 사용 - Google Patents

변이체 병원성 채점 및 분류 그리고 이의 사용 Download PDF

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KR20230043072A
KR20230043072A KR1020227045561A KR20227045561A KR20230043072A KR 20230043072 A KR20230043072 A KR 20230043072A KR 1020227045561 A KR1020227045561 A KR 1020227045561A KR 20227045561 A KR20227045561 A KR 20227045561A KR 20230043072 A KR20230043072 A KR 20230043072A
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pathogenicity
variant
gene
interest
score
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Korean (ko)
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홍 가오
카이-하우 파르
제레미 프란시스 맥레이
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일루미나, 인코포레이티드
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    • 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
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    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
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    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
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    • G06N3/044—Recurrent networks, e.g. Hopfield networks
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    • G06—COMPUTING OR CALCULATING; COUNTING
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    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/04—Architecture, e.g. interconnection topology
    • G06N3/0464—Convolutional networks [CNN, ConvNet]
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/08—Learning methods
    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino 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
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
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KR1020227045561A 2020-07-23 2021-07-21 변이체 병원성 채점 및 분류 그리고 이의 사용 Pending KR20230043072A (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063055724P 2020-07-23 2020-07-23
US63/055,724 2020-07-23
PCT/US2021/042599 WO2022020487A1 (en) 2020-07-23 2021-07-21 Variant pathogenicity scoring and classification and uses thereof

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KR20230043072A true KR20230043072A (ko) 2023-03-30

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US (1) US20220027388A1 (https=)
EP (1) EP4186061A1 (https=)
JP (1) JP2023534616A (https=)
KR (1) KR20230043072A (https=)
CN (1) CN115715415A (https=)
AU (1) AU2021313211A1 (https=)
CA (1) CA3184399A1 (https=)
IL (1) IL299070A (https=)
WO (1) WO2022020487A1 (https=)

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EP4036798A1 (de) * 2021-01-27 2022-08-03 Siemens Healthcare GmbH Computer-implementiertes verfahrens zur automatischen klassifikation von emitter-strukturen, vorrichtung zur durchführung des verfahrens, maschinenlesbarer programmcode und speichermedium
EP4612692A1 (en) * 2022-11-01 2025-09-10 Laboratory Corporation of America Holdings Population frequency modeling for quantitative variant pathogenicity estimation
EP4732284A1 (en) 2023-06-23 2026-04-29 Illumina, Inc. Method and system for estimating impact of mutations on fitness, lifespan, and fecundity

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US20200097835A1 (en) * 2014-06-17 2020-03-26 Ancestry.Com Dna, Llc Device, system and method for assessing risk of variant-specific gene dysfunction
DE102016005947B3 (de) * 2016-05-16 2017-06-08 Dimo Dietrich Verfahren zur Abschätzung der Prognose und zur Prädiktion des Ansprechens auf eine Immuntherapie von Patienten mit malignen Erkrankungen
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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CN115715415A (zh) 2023-02-24
US20220027388A1 (en) 2022-01-27
WO2022020487A1 (en) 2022-01-27
JP2023534616A (ja) 2023-08-10
EP4186061A1 (en) 2023-05-31
CA3184399A1 (en) 2022-01-27
AU2021313211A1 (en) 2022-12-01
IL299070A (en) 2023-02-01

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