SG11201911805VA - Deep learning-based variant classifier - Google Patents

Deep learning-based variant classifier

Info

Publication number
SG11201911805VA
SG11201911805VA SG11201911805VA SG11201911805VA SG11201911805VA SG 11201911805V A SG11201911805V A SG 11201911805VA SG 11201911805V A SG11201911805V A SG 11201911805VA SG 11201911805V A SG11201911805V A SG 11201911805VA SG 11201911805V A SG11201911805V A SG 11201911805VA
Authority
SG
Singapore
Prior art keywords
deep learning
based variant
variant classifier
classifier
learning
Prior art date
Application number
SG11201911805VA
Other languages
English (en)
Inventor
Ole Benjamin Schulz-Trieglaff
Anthony James Cox
Kai-How FARH
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
Application filed by Illumina Inc, Illumina Cambridge Ltd filed Critical Illumina Inc
Publication of SG11201911805VA publication Critical patent/SG11201911805VA/en

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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
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/21—Design or setup of recognition systems or techniques; Extraction of features in feature space; Blind source separation
    • G06F18/214—Generating training patterns; Bootstrap methods, e.g. bagging or boosting
    • G06F18/2148—Generating training patterns; Bootstrap methods, e.g. bagging or boosting characterised by the process organisation or structure, e.g. boosting cascade
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/24—Classification techniques
    • G06F18/243—Classification techniques relating to the number of classes
    • G06F18/2431—Multiple classes
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F9/00—Arrangements for program control, e.g. control units
    • G06F9/06—Arrangements for program control, e.g. control units using stored programs, i.e. using an internal store of processing equipment to receive or retain programs
    • G06F9/30—Arrangements for executing machine instructions, e.g. instruction decode
    • G06F9/38—Concurrent instruction execution, e.g. pipeline or look ahead
    • G06F9/3877—Concurrent instruction execution, e.g. pipeline or look ahead using a slave processor, e.g. coprocessor
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/04—Architecture, e.g. interconnection topology
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/02—Neural networks
    • G06N3/04—Architecture, e.g. interconnection topology
    • G06N3/045—Combinations of networks
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR 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
    • G06N3/084—Backpropagation, e.g. using gradient descent
    • 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
    • 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
    • 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

Landscapes

  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Software Systems (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Medical Informatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Computing Systems (AREA)
  • Mathematical Physics (AREA)
  • Computational Linguistics (AREA)
  • Biomedical Technology (AREA)
  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Public Health (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Ultra Sonic Daignosis Equipment (AREA)
SG11201911805VA 2018-01-15 2019-01-14 Deep learning-based variant classifier SG11201911805VA (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862617552P 2018-01-15 2018-01-15
PCT/US2019/013534 WO2019140402A1 (fr) 2018-01-15 2019-01-14 Classificateur de variants basé sur un apprentissage profond

Publications (1)

Publication Number Publication Date
SG11201911805VA true SG11201911805VA (en) 2020-01-30

Family

ID=65279694

Family Applications (1)

Application Number Title Priority Date Filing Date
SG11201911805VA SG11201911805VA (en) 2018-01-15 2019-01-14 Deep learning-based variant classifier

Country Status (11)

Country Link
US (2) US11705219B2 (fr)
EP (2) EP3901833A1 (fr)
JP (3) JP6862581B2 (fr)
KR (2) KR20210084686A (fr)
CN (1) CN110832510A (fr)
AU (3) AU2019206709B2 (fr)
CA (1) CA3065939A1 (fr)
IL (2) IL283427B2 (fr)
NZ (1) NZ759659A (fr)
SG (1) SG11201911805VA (fr)
WO (1) WO2019140402A1 (fr)

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Publication number Publication date
IL283427B2 (en) 2023-10-01
AU2021282469B2 (en) 2023-07-20
AU2021282469A1 (en) 2022-01-06
AU2019206709A1 (en) 2019-12-19
EP3619653B1 (fr) 2021-05-19
NZ759659A (en) 2022-07-01
US11705219B2 (en) 2023-07-18
IL283427A (en) 2021-06-30
AU2019206709B2 (en) 2021-09-09
US20190220704A1 (en) 2019-07-18
EP3619653A1 (fr) 2020-03-11
WO2019140402A1 (fr) 2019-07-18
JP2023080096A (ja) 2023-06-08
KR20200010488A (ko) 2020-01-30
EP3901833A1 (fr) 2021-10-27
JP6862581B2 (ja) 2021-04-21
JP7247253B2 (ja) 2023-03-28
JP2021120869A (ja) 2021-08-19
KR20210084686A (ko) 2021-07-07
CN110832510A (zh) 2020-02-21
IL283427B1 (en) 2023-06-01
IL271093B (en) 2021-09-30
AU2023251541A1 (en) 2023-11-16
IL271093A (en) 2020-01-30
KR102273717B1 (ko) 2021-07-06
CA3065939A1 (fr) 2019-07-18
JP2020525893A (ja) 2020-08-27
US20230386611A1 (en) 2023-11-30

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