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

Info

Publication number
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
Authority
KR
South Korea
Prior art keywords
amino acid
voxel
channels
distance
voxels
Prior art date
Application number
KR1020237034175A
Other languages
English (en)
Korean (ko)
Inventor
토비아스 햄프
홍 가오
카이-하우 파
Original Assignee
일루미나, 인코포레이티드
일루미나 케임브리지 리미티드
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority claimed from US17/232,056 external-priority patent/US20220336054A1/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

Links

Images

Classifications

    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • 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
    • G16B15/00ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • 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
    • 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
    • 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

Landscapes

  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Evolutionary Biology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Theoretical Computer Science (AREA)
  • Data Mining & Analysis (AREA)
  • Chemical & Material Sciences (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Genetics & Genomics (AREA)
  • Epidemiology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Artificial Intelligence (AREA)
  • Molecular Biology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Analytical Chemistry (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Peptides Or Proteins (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
KR1020237034175A 2021-04-15 2022-04-14 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들 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
US63/175,495 2021-04-15
US17/232,056 US20220336054A1 (en) 2021-04-15 2021-04-15 Deep Convolutional Neural Networks to Predict Variant Pathogenicity using Three-Dimensional (3D) Protein Structures
US202163175767P 2021-04-16 2021-04-16
US63/175,767 2021-04-16
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
US17/468,411 2021-09-07
US17/703,958 US20220336057A1 (en) 2021-04-15 2022-03-24 Efficient voxelization for deep learning
US17/703,958 2022-03-24
US17/703,935 2022-03-24
US17/703,935 US20220336056A1 (en) 2021-04-15 2022-03-24 Multi-channel protein voxelization to predict variant pathogenicity using deep convolutional neural networks
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

Family

ID=81580106

Family Applications (1)

Application Number Title Priority Date Filing Date
KR1020237034175A KR20230171930A (ko) 2021-04-15 2022-04-14 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들

Country Status (8)

Country Link
EP (1) EP4323990A1 (fr)
JP (1) JP2024513994A (fr)
KR (1) KR20230171930A (fr)
AU (1) AU2022256491A1 (fr)
BR (1) BR112023021302A2 (fr)
CA (1) CA3215462A1 (fr)
IL (1) IL307671A (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 (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
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

Also Published As

Publication number Publication date
BR112023021302A2 (pt) 2023-12-19
IL307671A (en) 2023-12-01
CA3215462A1 (fr) 2022-10-20
WO2022221589A1 (fr) 2022-10-20
JP2024513994A (ja) 2024-03-27
AU2022256491A1 (en) 2023-10-26
WO2022221587A1 (fr) 2022-10-20
EP4323990A1 (fr) 2024-02-21

Similar Documents

Publication Publication Date Title
WO2023014912A1 (fr) Utilisation basée sur l'apprentissage de transfert de cartes de contact de protéine pour une prédiction de pathogénicité de variant
US20220336056A1 (en) Multi-channel protein voxelization to predict variant pathogenicity using deep convolutional neural networks
US20230108368A1 (en) Combined and transfer learning of a variant pathogenicity predictor using gapped and non-gapped protein samples
KR20230171930A (ko) 3차원(3d) 단백질 구조들을 사용하여 변이체 병원성을 예측하기 위한 심층 콘볼루션 신경망들
US11515010B2 (en) Deep convolutional neural networks to predict variant pathogenicity using three-dimensional (3D) protein structures
KR20230170679A (ko) 심층 학습을 위한 효율적인 복셀화
US20230045003A1 (en) Deep learning-based use of protein contact maps for variant pathogenicity prediction
US20230047347A1 (en) Deep neural network-based variant pathogenicity prediction
US20230343413A1 (en) Protein structure-based protein language models
KR20240082269A (ko) 3차원(3d) 단백질 구조 복셀을 사용하는 진화 보존으로부터의 변이체 병원성 예측
KR20240088641A (ko) 갭 단백질 샘플 및 비-갭 단백질 샘플을 사용하는 변이체 병원성 예측자의 결합 학습 및 전이 학습
CN117178326A (zh) 使用三维(3d)蛋白质结构来预测变体致病性的深度卷积神经网络
WO2023059750A1 (fr) Apprentissage combiné et par transfert d'un prédicteur de pathogénicité de variants au moyen d'échantillons de protéines à brèche et sans brèche
US20240112751A1 (en) Copy number variation (cnv) breakpoint detection
KR20240041877A (ko) 변이 병원성 예측을 위한 단백질 접촉 맵의 전이학습 기반 이용
CN117581302A (zh) 使用有缺口和非缺口的蛋白质样品的变体致病性预测器的组合学习和迁移学习