IL307671A - Deep neural networks for predicting pathogenicity of variants using three-dimensional (3D) protein structures - Google Patents

Deep neural networks for predicting pathogenicity of variants using three-dimensional (3D) protein structures

Info

Publication number
IL307671A
IL307671A IL307671A IL30767123A IL307671A IL 307671 A IL307671 A IL 307671A IL 307671 A IL307671 A IL 307671A IL 30767123 A IL30767123 A IL 30767123A IL 307671 A IL307671 A IL 307671A
Authority
IL
Israel
Prior art keywords
amino acid
amino acids
voxel
voxels
nearest
Prior art date
Application number
IL307671A
Other languages
English (en)
Hebrew (he)
Original Assignee
Illumina Inc
Illumina Cambridge Ltd
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 Illumina Inc, Illumina Cambridge Ltd filed Critical Illumina Inc
Publication of IL307671A publication Critical patent/IL307671A/en

Links

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
    • 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
    • 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

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)
IL307671A 2021-04-15 2022-04-14 Deep neural networks for predicting pathogenicity of variants using three-dimensional (3D) protein structures IL307671A (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202163175495P 2021-04-15 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
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 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
IL307671A true IL307671A (en) 2023-12-01

Family

ID=81580106

Family Applications (1)

Application Number Title Priority Date Filing Date
IL307671A IL307671A (en) 2021-04-15 2022-04-14 Deep neural networks for predicting pathogenicity of variants using three-dimensional (3D) protein structures

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
CA3215462A1 (fr) 2022-10-20
WO2022221589A1 (fr) 2022-10-20
JP2024513994A (ja) 2024-03-27
KR20230171930A (ko) 2023-12-21
AU2022256491A1 (en) 2023-10-26
WO2022221587A1 (fr) 2022-10-20
EP4323990A1 (fr) 2024-02-21

Similar Documents

Publication Publication Date Title
CN107085716B (zh) 基于多任务生成对抗网络的跨视角步态识别方法
JP6425219B2 (ja) 映像符号化のための学習に基づく分割
Jin et al. CNN oriented fast QTBT partition algorithm for JVET intra coding
CN107371022B (zh) 应用于hevc医学影像无损编码的帧间编码单元快速划分方法
CN104427345B (zh) 运动矢量的获取方法、获取装置、视频编解码器及其方法
CN111462261B (zh) 针对h.266/vvc的快速cu分区和帧内决策方法
JP2012508883A5 (fr)
Gong et al. Real-time stereo matching using orthogonal reliability-based dynamic programming
IL307671A (en) Deep neural networks for predicting pathogenicity of variants using three-dimensional (3D) protein structures
CN108960486B (zh) 基于灰支持向量回归机预测适应值的交互式集合进化方法
Lin et al. Anchor assisted experience replay for online class-incremental learning
CN114821237A (zh) 一种基于多级对比学习的无监督船舶再识别方法及系统
Cai et al. A novel video coding strategy in HEVC for object detection
Maag et al. Improving video instance segmentation by light-weight temporal uncertainty estimates
CN104125470B (zh) 一种视频数据传输方法
IL307661A (en) Multichannel protein vocalization for variant pathogenicity prediction using deep neural networks
CN113269104A (zh) 群体异常行为识别方法、系统、存储介质及设备
CN114667732A (zh) 属性信息的预测方法、编码器、解码器、及存储介质
EP3304489B1 (fr) Appareil et procédé de traitement d'image
CN104125471B (zh) 一种视频图像压缩方法
Montazeri Memetic algorithm image enhancement for preserving mean brightness without losing image features
Niu et al. Improving post-training quantization on object detection with task loss-guided lp metric
Liu et al. Color image segmentation using multilevel thresholding-cooperative bacterial foraging algorithm
RU2023125430A (ru) Многоканальная вокселизация белка для прогнозирования варианта патогенности с применением глубоких сверточных нейронных сетей
Jiang et al. Hierarchical binary classification for monocular depth estimation