WO2026072986A1 - Détermination de corrections hors ligne pour des erreurs spécifiques de séquence provoquées par des séquences de faible complexité à l'aide d'un modèle d'apprentissage automatique - Google Patents

Détermination de corrections hors ligne pour des erreurs spécifiques de séquence provoquées par des séquences de faible complexité à l'aide d'un modèle d'apprentissage automatique

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Publication number
WO2026072986A1
WO2026072986A1 PCT/US2025/048223 US2025048223W WO2026072986A1 WO 2026072986 A1 WO2026072986 A1 WO 2026072986A1 US 2025048223 W US2025048223 W US 2025048223W WO 2026072986 A1 WO2026072986 A1 WO 2026072986A1
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Prior art keywords
base
base call
corrections
correction system
call
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PCT/US2025/048223
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English (en)
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Gavin Derek PARNABY
Gery VESSERE
Rishi VERMA
Jeffrey Fun-Shen GAU
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Illumina Inc
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Illumina Inc
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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
    • G16B40/10—Signal processing, e.g. from mass spectrometry [MS] or from PCR
    • 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
    • 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

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  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Data Mining & Analysis (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Software Systems (AREA)
  • Artificial Intelligence (AREA)
  • Analytical Chemistry (AREA)
  • Evolutionary Computation (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Public Health (AREA)
  • Genetics & Genomics (AREA)
  • Signal Processing (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

La présente divulgation décrit des procédés, des supports non transitoires lisibles par ordinateur et des systèmes qui génèrent des corrections d'appel de base pour des appels de base associés à une erreur spécifique de séquence. Par exemple, les systèmes divulgués peuvent déterminer, à partir de données de lecture d'un groupe d'oligonucléotides pendant une exécution de séquençage, un ensemble d'appels de base associés à une erreur spécifique de séquence et un ensemble de données de lecture pour l'ensemble d'appels de base. En outre, les systèmes divulgués peuvent écrire l'ensemble de données de lecture dans le stockage et utiliser l'ensemble de données de lecture stockées pour déterminer des corrections d'appel de base par l'intermédiaire d'un modèle d'apprentissage automatique. Sur la base des corrections d'appel de base, les systèmes divulgués peuvent générer des appels de base corrigés pour les données de lecture du groupe d'oligonucléotides. De plus, les systèmes divulgués peuvent détecter l'erreur spécifique de séquence en temps réel (par exemple, pendant un processus d'appel de base en temps réel) mais générer les corrections hors ligne (par exemple, de manière externe par rapport au processus en temps réel).
PCT/US2025/048223 2024-09-27 2025-09-26 Détermination de corrections hors ligne pour des erreurs spécifiques de séquence provoquées par des séquences de faible complexité à l'aide d'un modèle d'apprentissage automatique Pending WO2026072986A1 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202463700018P 2024-09-27 2024-09-27
US63/700,018 2024-09-27

Publications (1)

Publication Number Publication Date
WO2026072986A1 true WO2026072986A1 (fr) 2026-04-02

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ID=97598919

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2025/048223 Pending WO2026072986A1 (fr) 2024-09-27 2025-09-26 Détermination de corrections hors ligne pour des erreurs spécifiques de séquence provoquées par des séquences de faible complexité à l'aide d'un modèle d'apprentissage automatique

Country Status (1)

Country Link
WO (1) WO2026072986A1 (fr)

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