CA3242624A1 - Permutation automatique des versions de modele d'analyse de variants pour les applications d'analyse genomique - Google Patents

Permutation automatique des versions de modele d'analyse de variants pour les applications d'analyse genomique

Info

Publication number
CA3242624A1
CA3242624A1 CA3242624A CA3242624A CA3242624A1 CA 3242624 A1 CA3242624 A1 CA 3242624A1 CA 3242624 A CA3242624 A CA 3242624A CA 3242624 A CA3242624 A CA 3242624A CA 3242624 A1 CA3242624 A1 CA 3242624A1
Authority
CA
Canada
Prior art keywords
genomic
analysis model
genomic analysis
analysis
variant
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
CA3242624A
Other languages
English (en)
Inventor
Shannon Whitmore
Michael SMOOT
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Illumina Inc
Original Assignee
Illumina Inc
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 US17/935,497 external-priority patent/US20230207056A1/en
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of CA3242624A1 publication Critical patent/CA3242624A1/fr
Pending legal-status Critical Current

Links

Classifications

    • 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
    • G16B50/30—Data warehousing; Computing architectures
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; 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
    • G06F9/44—Arrangements for executing specific programs
    • G06F9/445—Program loading or initiating
    • G06F9/44536—Selecting among different versions
    • 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

Landscapes

  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Software Systems (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Bioethics (AREA)
  • Databases & Information Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

La présente invention concerne des procédés, des supports lisibles par ordinateur non transitoires et des systèmes qui peuvent modifier de manière flexible et efficace des versions d'un modèle d'analyse de variants pour différentes applications d'analyse génomique. Par exemple, les systèmes décrits peuvent déterminer une version particulière d'un modèle d'analyse de variants indiquée par une application d'analyse génomique et peuvent mettre à jour un dispositif d'analyse génomique (par exemple FPGA, CPU) en installant la version indiquée du modèle d'analyse de variants. Les systèmes décrits peuvent en outre exécuter une application d'analyse génomique pour analyser des appels de base de nucléotides en utilisant la version de modèle d'analyse de variants indiquée par l'application d'analyse génomique.
CA3242624A 2021-12-29 2022-09-30 Permutation automatique des versions de modele d'analyse de variants pour les applications d'analyse genomique Pending CA3242624A1 (fr)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US202163294693P 2021-12-29 2021-12-29
US63/294,693 2021-12-29
US17/935,497 2022-09-26
US17/935,497 US20230207056A1 (en) 2021-12-29 2022-09-26 Automatically switching variant analysis model versions for genomic analysis applications
PCT/US2022/077412 WO2023129764A1 (fr) 2021-12-29 2022-09-30 Permutation automatique des versions de modèle d'analyse de variants pour les applications d'analyse génomique

Publications (1)

Publication Number Publication Date
CA3242624A1 true CA3242624A1 (fr) 2023-07-06

Family

ID=83903203

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3242624A Pending CA3242624A1 (fr) 2021-12-29 2022-09-30 Permutation automatique des versions de modele d'analyse de variants pour les applications d'analyse genomique

Country Status (6)

Country Link
EP (1) EP4457814A1 (fr)
JP (1) JP2025504332A (fr)
KR (1) KR20240131386A (fr)
AU (1) AU2022425440A1 (fr)
CA (1) CA3242624A1 (fr)
WO (1) WO2023129764A1 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2025193747A1 (fr) * 2024-03-12 2025-09-18 Illumina, Inc. Modèles d'apprentissage automatique pour ordonner et accélérer les tâches de séquençage ou les lames d'échantillons de nucléotides correspondantes

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Also Published As

Publication number Publication date
JP2025504332A (ja) 2025-02-12
EP4457814A1 (fr) 2024-11-06
AU2022425440A1 (en) 2024-07-11
WO2023129764A1 (fr) 2023-07-06
KR20240131386A (ko) 2024-08-30

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