EP4721063A2 - Liaison de gènes humains à des phénotypes cliniques à l'aide de réseaux neuronaux graphiques - Google Patents

Liaison de gènes humains à des phénotypes cliniques à l'aide de réseaux neuronaux graphiques

Info

Publication number
EP4721063A2
EP4721063A2 EP24737217.0A EP24737217A EP4721063A2 EP 4721063 A2 EP4721063 A2 EP 4721063A2 EP 24737217 A EP24737217 A EP 24737217A EP 4721063 A2 EP4721063 A2 EP 4721063A2
Authority
EP
European Patent Office
Prior art keywords
gene
phenotype
genes
variant
prediction system
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
EP24737217.0A
Other languages
German (de)
English (en)
Inventor
Aashish Nath ADHIKARI
Kai-How FARH
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
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of EP4721063A2 publication Critical patent/EP4721063A2/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
    • 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
    • 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
    • G16B40/30—Unsupervised data analysis
    • 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • G16B5/20—Probabilistic models

Landscapes

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

Abstract

La présente divulgation concerne des procédés, des supports lisibles par ordinateur non transitoires et des systèmes qui peuvent utiliser un ou plusieurs modèles d'apprentissage automatique pour prédire des relations entre des gènes humains et des phénotypes. Par exemple, les systèmes divulgués peuvent générer des gènes humains par rapport à divers phénotypes cliniques. En tant que fondement permettant de générer de telles prédictions, les systèmes divulgués peuvent entraîner un réseau neuronal d'incorporation de gènes afin de déterminer des relations entre des gènes et des phénotypes à l'aide d'un processus d'entraînement en deux étapes qui comprend une étape d'entraînement supervisé et une étape de réglage fin (fine-tuning) non supervisé. De plus, les systèmes divulgués peuvent utiliser le réseau neuronal d'incorporation de gènes pour générer des scores de gène à phénotype indiquant des relations entre des gènes et des phénotypes sur la base de similarités entre des gènes (tels que représentés par des incorporations de gènes). En outre, les systèmes divulgués peuvent utiliser un modèle de variant de diagnostic pour déterminer si des échantillons génomiques présentent des variants de diagnostic reposant sur des scores de gène à phénotype ainsi que d'autres caractéristiques de niveau de variante des échantillons génomiques.
EP24737217.0A 2023-06-02 2024-06-02 Liaison de gènes humains à des phénotypes cliniques à l'aide de réseaux neuronaux graphiques Pending EP4721063A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202363505736P 2023-06-02 2023-06-02
PCT/US2024/032170 WO2024249973A2 (fr) 2023-06-02 2024-06-02 Liaison de gènes humains à des phénotypes cliniques à l'aide de réseaux neuronaux graphiques

Publications (1)

Publication Number Publication Date
EP4721063A2 true EP4721063A2 (fr) 2026-04-08

Family

ID=91737673

Family Applications (1)

Application Number Title Priority Date Filing Date
EP24737217.0A Pending EP4721063A2 (fr) 2023-06-02 2024-06-02 Liaison de gènes humains à des phénotypes cliniques à l'aide de réseaux neuronaux graphiques

Country Status (2)

Country Link
EP (1) EP4721063A2 (fr)
WO (1) WO2024249973A2 (fr)

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EP1701785A1 (fr) 2004-01-07 2006-09-20 Solexa Ltd. Reseaux moleculaires modifies
CA2579150C (fr) 2004-09-17 2014-11-25 Pacific Biosciences Of California, Inc. Appareil et procede d'analyse de molecules
WO2006064199A1 (fr) 2004-12-13 2006-06-22 Solexa Limited Procede ameliore de detection de nucleotides
EP1888743B1 (fr) 2005-05-10 2011-08-03 Illumina Cambridge Limited Polymerases ameliorees
GB0514936D0 (en) 2005-07-20 2005-08-24 Solexa Ltd Preparation of templates for nucleic acid sequencing
US7405281B2 (en) 2005-09-29 2008-07-29 Pacific Biosciences Of California, Inc. Fluorescent nucleotide analogs and uses therefor
CA2648149A1 (fr) 2006-03-31 2007-11-01 Solexa, Inc. Systemes et procedes pour analyse de sequencage par synthese
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Also Published As

Publication number Publication date
WO2024249973A2 (fr) 2024-12-05
WO2024249973A3 (fr) 2025-01-16

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