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KR20230171930A - 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들 - Google Patents

3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들 Download PDF

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KR20230171930A
KR20230171930A KR1020237034175A KR20237034175A KR20230171930A KR 20230171930 A KR20230171930 A KR 20230171930A KR 1020237034175 A KR1020237034175 A KR 1020237034175A KR 20237034175 A KR20237034175 A KR 20237034175A KR 20230171930 A KR20230171930 A KR 20230171930A
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amino acid
voxel
channels
distance
voxels
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Korean (ko)
Inventor
토비아스 햄프
홍 가오
카이-하우 파
Original Assignee
일루미나, 인코포레이티드
일루미나 케임브리지 리미티드
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Priority claimed from US17/232,056 external-priority patent/US12217829B2/en
Priority claimed from US17/703,958 external-priority patent/US20220336057A1/en
Application filed by 일루미나, 인코포레이티드, 일루미나 케임브리지 리미티드 filed Critical 일루미나, 인코포레이티드
Publication of KR20230171930A publication Critical patent/KR20230171930A/ko
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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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics

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  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Artificial Intelligence (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
  • Peptides Or Proteins (AREA)
KR1020237034175A 2021-04-15 2022-04-14 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들 Pending KR20230171930A (ko)

Applications Claiming Priority (13)

Application Number Priority Date Filing Date Title
US202163175495P 2021-04-15 2021-04-15
US17/232,056 2021-04-15
US17/232,056 US12217829B2 (en) 2021-04-15 2021-04-15 Artificial intelligence-based analysis of protein three-dimensional (3D) structures
US63/175,495 2021-04-15
US202163175767P 2021-04-16 2021-04-16
US63/175,767 2021-04-16
US17/468,411 2021-09-07
US17/468,411 US11515010B2 (en) 2021-04-15 2021-09-07 Deep convolutional neural networks to predict variant pathogenicity using three-dimensional (3D) protein structures
US17/703,958 US20220336057A1 (en) 2021-04-15 2022-03-24 Efficient voxelization for deep learning
US17/703,935 2022-03-24
US17/703,935 US12444482B2 (en) 2021-04-15 2022-03-24 Multi-channel protein voxelization to predict variant pathogenicity using deep convolutional neural networks
US17/703,958 2022-03-24
PCT/US2022/024913 WO2022221589A1 (fr) 2021-04-15 2022-04-14 Réseaux neuronaux convolutifs profonds pour prédire une pathogénicité d'un variant à l'aide de structures protéiques tridimensionnelles (3d)

Publications (1)

Publication Number Publication Date
KR20230171930A true KR20230171930A (ko) 2023-12-21

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KR1020237034175A Pending KR20230171930A (ko) 2021-04-15 2022-04-14 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들

Country Status (9)

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EP (1) EP4323990A1 (fr)
JP (2) JP7712387B2 (fr)
KR (1) KR20230171930A (fr)
AU (1) AU2022256491A1 (fr)
BR (1) BR112023021302A2 (fr)
CA (1) CA3215462A1 (fr)
IL (1) IL307671B2 (fr)
MX (1) MX2023012228A (fr)
WO (2) WO2022221587A1 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN116153435B (zh) * 2023-04-21 2023-08-11 山东大学齐鲁医院 基于上色与三维结构的多肽预测方法及系统

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9373059B1 (en) * 2014-05-05 2016-06-21 Atomwise Inc. Systems and methods for applying a convolutional network to spatial data
US10423861B2 (en) * 2017-10-16 2019-09-24 Illumina, Inc. Deep learning-based techniques for training deep convolutional neural networks
WO2019084559A1 (fr) * 2017-10-27 2019-05-02 Apostle, Inc. Prédiction d'impact pathogène lié au cancer de mutations somatiques à l'aide de procédés basés sur un apprentissage profond
US11210554B2 (en) * 2019-03-21 2021-12-28 Illumina, Inc. Artificial intelligence-based generation of sequencing metadata
CN110245685B (zh) * 2019-05-15 2022-03-25 清华大学 基因组单位点变异致病性的预测方法、系统及存储介质
US12217829B2 (en) * 2021-04-15 2025-02-04 Illumina, Inc. Artificial intelligence-based analysis of protein three-dimensional (3D) structures
KR20230170680A (ko) * 2021-04-15 2023-12-19 일루미나, 인코포레이티드 심층 콘볼루션 신경망들을 사용하여 변이체 병원성을 예측하기 위한 다중 채널 단백질 복셀화

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Publication number Publication date
MX2023012228A (es) 2024-01-08
BR112023021302A2 (pt) 2023-12-19
CA3215462A1 (fr) 2022-10-20
IL307671B2 (en) 2025-10-01
WO2022221587A1 (fr) 2022-10-20
JP2025148468A (ja) 2025-10-07
WO2022221589A1 (fr) 2022-10-20
EP4323990A1 (fr) 2024-02-21
JP7712387B2 (ja) 2025-07-23
IL307671B1 (en) 2025-06-01
JP2024513994A (ja) 2024-03-27
AU2022256491A1 (en) 2023-10-26
JP7755105B2 (ja) 2025-10-15
IL307671A (en) 2023-12-01

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