WO2020008192A3 - Prédiction de phénotype - Google Patents

Prédiction de phénotype Download PDF

Info

Publication number
WO2020008192A3
WO2020008192A3 PCT/GB2019/051885 GB2019051885W WO2020008192A3 WO 2020008192 A3 WO2020008192 A3 WO 2020008192A3 GB 2019051885 W GB2019051885 W GB 2019051885W WO 2020008192 A3 WO2020008192 A3 WO 2020008192A3
Authority
WO
WIPO (PCT)
Prior art keywords
phenotypes
subject
phenotype prediction
characterising
phenotype
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.)
Ceased
Application number
PCT/GB2019/051885
Other languages
English (en)
Other versions
WO2020008192A2 (fr
Inventor
Daniel MARTIN-HERRANZ
Jose DIANES-SANTOS
Thomas STUBBS
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.)
Chronomics Ltd
Original Assignee
Chronomics 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 Chronomics Ltd filed Critical Chronomics Ltd
Publication of WO2020008192A2 publication Critical patent/WO2020008192A2/fr
Publication of WO2020008192A3 publication Critical patent/WO2020008192A3/fr
Anticipated expiration legal-status Critical
Ceased 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
    • 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
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/60—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for patient-specific data, e.g. for electronic patient records
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H15/00—ICT specially adapted for medical reports, e.g. generation or transmission thereof
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
    • 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

  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medical Informatics (AREA)
  • Public Health (AREA)
  • General Health & Medical Sciences (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Biomedical Technology (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)

Abstract

L'invention concerne un procédé de caractérisation de phénotypes d'un sujet. Ce procédé consiste à caractériser un ou plusieurs phénotypes d'un sujet à partir de données épigénétiques du sujet à l'aide d'un algorithme d'apprentissage automatique (130). Le ou les phénotypes sont influencés par des facteurs environnementaux et constituent des facteurs de risque pour une ou plusieurs maladies.
PCT/GB2019/051885 2018-07-03 2019-07-03 Prédiction de phénotype Ceased WO2020008192A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GB1810897.7 2018-07-03
GBGB1810897.7A GB201810897D0 (en) 2018-07-03 2018-07-03 Phenotype prediction

Publications (2)

Publication Number Publication Date
WO2020008192A2 WO2020008192A2 (fr) 2020-01-09
WO2020008192A3 true WO2020008192A3 (fr) 2020-07-23

Family

ID=63143807

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2019/051885 Ceased WO2020008192A2 (fr) 2018-07-03 2019-07-03 Prédiction de phénotype

Country Status (2)

Country Link
GB (1) GB201810897D0 (fr)
WO (1) WO2020008192A2 (fr)

Families Citing this family (24)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110160080A1 (en) 2008-05-14 2011-06-30 Chang Sherman H Diagnosis of Melanoma and Solar Lentigo by Nucleic Acid Analysis
WO2016179043A1 (fr) 2015-05-01 2016-11-10 Dermtech, Inc. Système non invasif de prélèvement de peau
US11976332B2 (en) 2018-02-14 2024-05-07 Dermtech, Inc. Gene classifiers and uses thereof in non-melanoma skin cancers
JP7431812B2 (ja) 2018-05-09 2024-02-15 ダームテック，インク． 自己免疫疾患における新規な遺伝子分類とその使用
CA3134936A1 (fr) 2019-03-26 2020-10-01 Dermtech, Inc. Nouveaux classificateurs de genes et leurs utilisations pour des cancers de la peau
CN111223520B (zh) * 2019-11-20 2023-09-12 云南省烟草农业科学研究院 一种预测烟草尼古丁含量的全基因组选择模型及其应用
CN111139314B (zh) * 2020-02-03 2023-08-11 河南省动物疫病预防控制中心 A型塞内卡病毒的微滴数字pcr检测引物、探针及其应用
US12531160B1 (en) 2020-05-18 2026-01-20 Apple Inc. Risk assessment for metabolic syndrome
AU2021275995B2 (en) * 2020-05-22 2026-02-12 Insitro, Inc. Predicting disease outcomes using machine learned models
US10991190B1 (en) 2020-07-20 2021-04-27 Abbott Laboratories Digital pass verification systems and methods
CN112349360B (zh) * 2020-10-29 2024-01-09 山东益本天肽健康产业有限公司 一种基于食物不耐受检测的肠道健康管理系统及方法
USD989861S1 (en) 2021-02-16 2023-06-20 Dermtech, Inc. Dermatology report document
USD966299S1 (en) 2021-02-16 2022-10-11 Dermtech, Inc. Computer display panel with a graphical user interface for a dermatology report
USD988399S1 (en) 2021-02-16 2023-06-06 Dermtech, Inc. Dermatology report document
USD966300S1 (en) 2021-02-16 2022-10-11 Dermtech, Inc. Computer display panel with a graphical user interface for a dermatology report
GB2622963A (en) * 2021-05-06 2024-04-03 January Inc Systems, methods and devices for predicting personalized biological state with model produced with meta-learning
US20240212789A1 (en) * 2021-05-19 2024-06-27 NEC Laboratories Europe GmbH Method and system for predicting a phenotypic feature of a host based on a microbiome of the host
CN113189249B (zh) * 2021-06-07 2022-10-11 山西医科大学 一种基于uplc-ms技术推断大鼠死亡时间的方法
CN114548285A (zh) * 2022-02-23 2022-05-27 浙江省农业科学院 施药人员健康预警方法、系统、终端及存储介质
EP4503038A4 (fr) * 2022-03-30 2025-07-30 Fujifilm Corp Système d'apprentissage, système de décision et système de prédiction, et procédé d'apprentissage, procédé de décision et procédé de prédiction
CN114925518B (zh) * 2022-05-17 2024-04-26 重庆大学 一种基于时间序列和多传感器融合的桥梁健康预警方法
CN114903443B (zh) * 2022-07-15 2022-12-13 北京大学第三医院（北京大学第三临床医学院） 表征衰老的表观生物学分析方法、系统、设备及存储介质
USD1061554S1 (en) 2022-09-09 2025-02-11 Dermtech, Llc Computer display panel with a graphical user interface for a dermatology report
GB2634786A (en) * 2023-10-20 2025-04-23 The Nu B V System and computer-implemented method for determining biological age of user

Citations (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040102905A1 (en) * 2001-03-26 2004-05-27 Epigenomics Ag Method for epigenetic feature selection
US20040234973A1 (en) * 2001-03-26 2004-11-25 Peter Adorjan Methods and nucleic acids for the analysis of hematopoietic cell proliferative disorders
US20060099624A1 (en) * 2004-10-18 2006-05-11 Wang Lu-Yong System and method for providing personalized healthcare for alzheimer's disease
US20070027636A1 (en) * 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
GB2444410A (en) * 2006-11-30 2008-06-04 Navigenics Inc Genetic profiling method
US20090024330A1 (en) * 2007-07-19 2009-01-22 Searete Llc, A Limited Liability Corporation Of The State Of Delaware Methods and systems relating to epigenetic phenotypes
US20100063843A1 (en) * 2008-09-10 2010-03-11 Expanse Networks, Inc. Masked Data Record Access
US20120094288A1 (en) * 2009-02-17 2012-04-19 Murdoch Childrens Research Institute Assay for determining epigenetic profiles of markers of fragile x alleles
US20140046696A1 (en) * 2012-08-10 2014-02-13 Assurerx Health, Inc. Systems and Methods for Pharmacogenomic Decision Support in Psychiatry
US20140212873A1 (en) * 2011-06-24 2014-07-31 La Trobe University Treatment and diagnosis of epigenetic disorders and conditions
US20140222349A1 (en) * 2013-01-16 2014-08-07 Assurerx Health, Inc. System and Methods for Pharmacogenomic Classification
US20160259909A1 (en) * 2014-10-21 2016-09-08 uBiome, Inc. Method and system for microbiome-derived diagnostics and therapeutics for locomotor system conditions
WO2017214397A1 (fr) * 2016-06-08 2017-12-14 University Of Iowa Research Foundation Compositions et procédés de détection d'une prédisposition à une maladie cardiovasculaire

Patent Citations (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20040102905A1 (en) * 2001-03-26 2004-05-27 Epigenomics Ag Method for epigenetic feature selection
US20040234973A1 (en) * 2001-03-26 2004-11-25 Peter Adorjan Methods and nucleic acids for the analysis of hematopoietic cell proliferative disorders
US20060099624A1 (en) * 2004-10-18 2006-05-11 Wang Lu-Yong System and method for providing personalized healthcare for alzheimer's disease
US20070027636A1 (en) * 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
GB2444410A (en) * 2006-11-30 2008-06-04 Navigenics Inc Genetic profiling method
US20090024330A1 (en) * 2007-07-19 2009-01-22 Searete Llc, A Limited Liability Corporation Of The State Of Delaware Methods and systems relating to epigenetic phenotypes
US20100063843A1 (en) * 2008-09-10 2010-03-11 Expanse Networks, Inc. Masked Data Record Access
US20120094288A1 (en) * 2009-02-17 2012-04-19 Murdoch Childrens Research Institute Assay for determining epigenetic profiles of markers of fragile x alleles
US20140212873A1 (en) * 2011-06-24 2014-07-31 La Trobe University Treatment and diagnosis of epigenetic disorders and conditions
US20140046696A1 (en) * 2012-08-10 2014-02-13 Assurerx Health, Inc. Systems and Methods for Pharmacogenomic Decision Support in Psychiatry
US20140222349A1 (en) * 2013-01-16 2014-08-07 Assurerx Health, Inc. System and Methods for Pharmacogenomic Classification
US20160259909A1 (en) * 2014-10-21 2016-09-08 uBiome, Inc. Method and system for microbiome-derived diagnostics and therapeutics for locomotor system conditions
WO2017214397A1 (fr) * 2016-06-08 2017-12-14 University Of Iowa Research Foundation Compositions et procédés de détection d'une prédisposition à une maladie cardiovasculaire

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
DOGAN M. V. ET AL: "Integrated genetic and epigenetic prediction of coronary heart disease in the Framingham Heart Study", PLOS ONE, vol. 13, no. 1, 2 January 2018 (2018-01-02), pages e0190549, XP055571536, DOI: 10.1371/journal.pone.0190549 *
HOLDER L. B. ET AL: "Machine learning for epigenetics and future medical applications", EPIGENETICS, vol. 12, no. 7, 19 May 2017 (2017-05-19), US, pages 505 - 514, XP055570103, ISSN: 1559-2294, DOI: 10.1080/15592294.2017.1329068 *
LAPPALAINEN I. ET AL: "The European Genome-phenome Archive of human data consented for biomedical research", NATURE GENETICS, vol. 47, no. 7, 26 June 2015 (2015-06-26), Berlin, Heidelberg, pages 692 - 695, XP055571538, ISBN: 978-3-662-48799-0, DOI: 10.1038/ng.3312 *
ROUNGE T. B. ET AL: "Genome-wide DNA methylation in saliva and body size of adolescent girls", EPIGENOMICS, vol. 8, no. 11, 1 November 2016 (2016-11-01), United Kingdom, pages 1495 - 1505, XP055558004, ISSN: 1750-1911, DOI: 10.2217/epi-2016-0045 *
RUSKIN H. J. ET AL: "Recent advances in computational epigenetics", ADVANCES IN GENOMICS AND GENETICS, vol. Volume 8, 28 December 2017 (2017-12-28), pages 1 - 12, XP055570753, DOI: 10.2147/AGG.S115524 *
VERCELLI D.: "Genetics, epigenetics, and the environment", JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol. 113, no. 3, 1 March 2004 (2004-03-01), AMSTERDAM, NL, pages 381 - 386, XP055699535, ISSN: 0091-6749, DOI: 10.1016/j.jaci.2004.01.752 *

Also Published As

Publication number Publication date
WO2020008192A2 (fr) 2020-01-09
GB201810897D0 (en) 2018-08-15

Similar Documents

Publication Publication Date Title
EP4214640A4 (fr) Procédés et systèmes pour la mise à jour de modèles d'apprentissage automatique
EP3816998A4 (fr) Procédé et système de traitement de caractéristiques sonores sur la base d'un apprentissage profond
WO2019072288A3 (fr) Plateforme de test pour réseaux de chaînes de blocs
EP3989131A4 (fr) Procédé et système permettant de réaliser un processus de modélisation d'apprentissage machine
ZA202104574B (en) Ship-type-spoofing detection method employing ensemble learning
EP4085353A4 (fr) Système et procédé d'analyse et de détermination de relations à partir de diverses sources de données
EP4318338A4 (fr) Procédé et appareil d'apprentissage fédéré
WO2019046347A3 (fr) Procédé et système de caractérisation de conditions liées à un système reproducteur féminin associées à des micro-organismes
EP3834166A4 (fr) Plateforme de visualisation d'analyse et de planification financière par apprentissage automatique et intelligence artificielle axée sur les données et basée sur le cloud
EP3968337A4 (fr) Procédé de prédiction d'attribut d'objet cible basé sur l'apprentissage automatique et dispositif associé
WO2019204632A8 (fr) Procédé et système d'analyse génétique rapide
MY210195A (en) Connection failure recovery method and device
MX2023005175A (es) Extrapolacion de tendencias en puntajes de confianza.
EP3785179A4 (fr) Procédé et système pour effectuer un apprentissage machine
EP4113076A3 (fr) Appareil d'entraînement à la détection de sons anormaux, ainsi que procédés et programme associé
EP4078247A4 (fr) Procédés et systèmes de modélisation de sous-surface employant une prédiction d'apprentissage machine d'ensemble entraînée avec des données dérivées d'au moins un modèle externe
EP3689228A4 (fr) Appareil d'analyse de signal biologique utilisant l'apprentissage automatique et procédé associé
EP3996590A4 (fr) Système et procédé d'adaptation de domaine en ligne de modèles pour la prédiction de l'hypoglycémie dans le diabète de type 1
EP3772703A3 (fr) Appareil et procédé de traitement d'images
ZA202102344B (en) Method and system of identifying and quantifying a protein
EP4497259A4 (fr) Appareil et procédés d'apprentissage machine à étages multiples intégrant des modèles en cascade
MX2021008923A (es) Aparato, sistema y metodo para determinar uno o mas parametros de un error refractivo de un ojo examinado.
EP4013889A4 (fr) Système et procédé d'évaluation du risque de schizophrénie
AU2021345220A9 (en) Training end-to-end weakly supervised networks at the specimen (supra-image) level
PH12021552983A1 (en) Process for source attribution

Legal Events

Date Code Title Description
121 Ep: the epo has been informed by wipo that ep was designated in this application

Ref document number: 19737192

Country of ref document: EP

Kind code of ref document: A2

NENP Non-entry into the national phase

Ref country code: DE

122 Ep: pct application non-entry in european phase

Ref document number: 19737192

Country of ref document: EP

Kind code of ref document: A2