EP3773534A4 - Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal - Google Patents

Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal Download PDF

Info

Publication number
EP3773534A4
EP3773534A4 EP19777591.9A EP19777591A EP3773534A4 EP 3773534 A4 EP3773534 A4 EP 3773534A4 EP 19777591 A EP19777591 A EP 19777591A EP 3773534 A4 EP3773534 A4 EP 3773534A4
Authority
EP
European Patent Office
Prior art keywords
systems
devices
deep learning
based methods
prenatal testing
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
EP19777591.9A
Other languages
German (de)
English (en)
Other versions
EP3773534A1 (fr
Inventor
Mathias Ehrich
Lawrence DU
Dirk Van Den Boom
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.)
Juno Diagnostics Inc
Original Assignee
Juno Diagnostics 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 Juno Diagnostics Inc filed Critical Juno Diagnostics Inc
Priority claimed from PCT/US2019/024416 external-priority patent/WO2019191319A1/fr
Publication of EP3773534A1 publication Critical patent/EP3773534A1/fr
Publication of EP3773534A4 publication Critical patent/EP3773534A4/fr
Pending legal-status Critical Current

Links

Classifications

    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • 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
    • G06N5/00—Computing arrangements using knowledge-based models
    • G06N5/01—Dynamic search techniques; Heuristics; Dynamic trees; Branch-and-bound
    • 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
    • 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

Landscapes

  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Biomedical Technology (AREA)
  • Medical Informatics (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Artificial Intelligence (AREA)
  • Computing Systems (AREA)
  • Mathematical Physics (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Computational Linguistics (AREA)
  • Epidemiology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Databases & Information Systems (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Molecular Biology (AREA)
  • Evolutionary Biology (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Biotechnology (AREA)
  • Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicinal Chemistry (AREA)
  • Pathology (AREA)
  • Organic Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Analytical Chemistry (AREA)
  • General Chemical & Material Sciences (AREA)
EP19777591.9A 2018-03-30 2019-03-27 Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal Pending EP3773534A4 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862650879P 2018-03-30 2018-03-30
PCT/US2019/024416 WO2019191319A1 (fr) 2018-03-30 2019-03-27 Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal

Publications (2)

Publication Number Publication Date
EP3773534A1 EP3773534A1 (fr) 2021-02-17
EP3773534A4 true EP3773534A4 (fr) 2021-12-29

Family

ID=74004617

Family Applications (1)

Application Number Title Priority Date Filing Date
EP19777591.9A Pending EP3773534A4 (fr) 2018-03-30 2019-03-27 Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal

Country Status (2)

Country Link
EP (1) EP3773534A4 (fr)
CN (1) CN112203648A (fr)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11188778B1 (en) 2020-05-05 2021-11-30 Illumina, Inc. Equalization-based image processing and spatial crosstalk attenuator
CN113088555A (zh) * 2021-04-26 2021-07-09 四川大学 基于机器学习模型的微生物菌落检验方法以及检验系统
EP4374378A1 (fr) * 2021-07-19 2024-05-29 Illumina, Inc. Profileurs de signaux spécialisés pour appel de base
US11455487B1 (en) 2021-10-26 2022-09-27 Illumina Software, Inc. Intensity extraction and crosstalk attenuation using interpolation and adaptation for base calling
CN113999900B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 以孕妇游离dna评估胎儿dna浓度的方法及应用
CN113969310B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 胎儿dna浓度的评估方法及应用
WO2023097685A1 (fr) * 2021-12-03 2023-06-08 深圳华大生命科学研究院 Procédé et dispositif de reconnaissance de bases pour échantillon d'acide nucléique

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015183872A1 (fr) * 2014-05-30 2015-12-03 Sequenom, Inc. Déterminations de représentation de chromosomes
WO2016019042A1 (fr) * 2014-07-30 2016-02-04 Sequenom, Inc. Méthodes et procédés d'évaluation non invasive de variations génétiques
WO2017136059A1 (fr) * 2016-02-03 2017-08-10 Verinata Health, Inc. Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies
US20170342500A1 (en) * 2014-12-19 2017-11-30 Danmarks Tekniske Universitet Method for identification of tissue or organ localization of a tumour
WO2018057888A1 (fr) * 2016-09-23 2018-03-29 Driver, Inc. Systèmes et procédés intégrés de traitement et d'analyse automatisés d'échantillons biologiques, traitement d'informations cliniques et mise en correspondance d'essais cliniques

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015183872A1 (fr) * 2014-05-30 2015-12-03 Sequenom, Inc. Déterminations de représentation de chromosomes
WO2016019042A1 (fr) * 2014-07-30 2016-02-04 Sequenom, Inc. Méthodes et procédés d'évaluation non invasive de variations génétiques
US20170342500A1 (en) * 2014-12-19 2017-11-30 Danmarks Tekniske Universitet Method for identification of tissue or organ localization of a tumour
WO2017136059A1 (fr) * 2016-02-03 2017-08-10 Verinata Health, Inc. Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies
WO2018057888A1 (fr) * 2016-09-23 2018-03-29 Driver, Inc. Systèmes et procédés intégrés de traitement et d'analyse automatisés d'échantillons biologiques, traitement d'informations cliniques et mise en correspondance d'essais cliniques

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
CHRISTOPHER K ELLISON ET AL: "Using Targeted Sequencing of Paralogous Sequences for Noninvasive Detection of Selected Fetal Aneuploidies", CLINICAL CHEMISTRY, OXFORD UNIVERSITY PRESS, US, vol. 62, no. 12, 1 December 2016 (2016-12-01), pages 1621 - 1629, XP009195289, ISSN: 0009-9147, DOI: 10.1373/CLINCHEM.2016.260034 *
NAM-PHUONG D NGUYEN ET AL: "Ultra-large alignments using phylogeny-aware profiles", GENOME BIOLOGY, BIOMED CENTRAL LTD, vol. 16, no. 1, 16 June 2015 (2015-06-16), pages 124, XP021228089, ISSN: 1465-6906, DOI: 10.1186/S13059-015-0688-Z *
See also references of WO2019191319A1 *
YONGHONG PENG ED - XUE LI ET AL: "Robust Ensemble Learning for Cancer Diagnosis Based on Microarray Data Classification", 13 August 2005, ADVANCED DATA MINING AND APPLICATIONS; [LECTURE NOTES IN COMPUTER SCIENCE;LECTURE NOTES IN ARTIFICIAL INTELLIGENCE;LNCS], SPRINGER-VERLAG, BERLIN/HEIDELBERG, PAGE(S) 564 - 574, ISBN: 978-3-540-27894-8, XP019012999 *
YUCHEN YUAN ET AL: "DeepGene: an advanced cancer type classifier based on deep learning and somatic point mutations", BMC BIOINFORMATICS, BIOMED CENTRAL LTD, LONDON, UK, vol. 17, no. 17, 23 December 2016 (2016-12-23), pages 243 - 256, XP021265208, DOI: 10.1186/S12859-016-1334-9 *

Also Published As

Publication number Publication date
EP3773534A1 (fr) 2021-02-17
CN112203648A (zh) 2021-01-08

Similar Documents

Publication Publication Date Title
EP3644542A4 (fr) Procédé de rapport d'informations de capacité, dispositif et système associés
EP3773534A4 (fr) Procédés, dispositifs et systèmes basés sur l'apprentissage profond pour le dépistage anténatal
EP3956862A4 (fr) Systèmes et procédés de persistance de sujet basée sur un apprentissage profond
EP3550800A4 (fr) Procédé, dispositif et système de fourniture de service
EP3404552A4 (fr) Procédé, système et dispositif de test et support de stockage lisible
EP3637926A4 (fr) Procédé, dispositif, et système d'exécution de continuité de service
EP3703466A4 (fr) Procédé, dispositif et système d'amélioration de fiabilité de service
EP3278213A4 (fr) Systèmes, procédés et dispositifs destinés à une plateforme d'applications d'internet des objets (iot) en entreprise
EP3417314A4 (fr) Systèmes, procédés et dispositifs de géolocalisation
EP3661635A4 (fr) Systèmes, dispositifs et procédés pour l'isotachophorèse
EP3688158A4 (fr) Dispositifs, systèmes et procédés d'analyse de biomarqueur
EP3638465A4 (fr) Systèmes, dispositifs et méthodes de détection d'emplacements et de forces
EP3264076A4 (fr) Système d'évaluation de structure, dispositif d'évaluation de structure et procédé d'évaluation de structure
EP3460431A4 (fr) Dispositif de mesure de contrainte, système de mesure de contrainte, et procédé de mesure de contrainte
EP3407545A4 (fr) Dispositif, système et procédé d'évaluation
EP3811057A4 (fr) Procédés, dispositifs et systèmes de détection de niveaux d'analytes
EP3655873A4 (fr) Systèmes et procédés pour ensembles d'opérations dépendant d'une chaîne de blocs
EP3248339A4 (fr) Dispositifs, systèmes et procédés pour des chaînes de services
EP3320494A4 (fr) Systèmes et procédés de prédiction de point temporel de service
EP3461078A4 (fr) Procédé, dispositif, et système de détermination de trajet
EP3602475A4 (fr) Dispositifs, procédés et systèmes pour déterminer la conformité à une norme environnementale
EP3714633A4 (fr) Procédés, dispositifs, et systèmes pour une détermination de transmissions initiales dans des transmissions sans autorisation
EP3457790A4 (fr) Procédé, dispositif et système de transmission d'informations de configuration
EP3290915A4 (fr) Système d'évaluation de structure, dispositif d'évaluation de structure et procédé d'évaluation de structure
EP3624487A4 (fr) Procédé, dispositif et système de rapport

Legal Events

Date Code Title Description
STAA Information on the status of an ep patent application or granted ep patent

Free format text: STATUS: THE INTERNATIONAL PUBLICATION HAS BEEN MADE

PUAI Public reference made under article 153(3) epc to a published international application that has entered the european phase

Free format text: ORIGINAL CODE: 0009012

STAA Information on the status of an ep patent application or granted ep patent

Free format text: STATUS: REQUEST FOR EXAMINATION WAS MADE

17P Request for examination filed

Effective date: 20200929

AK Designated contracting states

Kind code of ref document: A1

Designated state(s): AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR

AX Request for extension of the european patent

Extension state: BA ME

REG Reference to a national code

Ref country code: HK

Ref legal event code: DE

Ref document number: 40038537

Country of ref document: HK

DAV Request for validation of the european patent (deleted)
DAX Request for extension of the european patent (deleted)
A4 Supplementary search report drawn up and despatched

Effective date: 20211126

RIC1 Information provided on ipc code assigned before grant

Ipc: G16H 50/20 20180101ALI20211122BHEP

Ipc: C12Q 1/68 20180101ALI20211122BHEP

Ipc: G06N 7/00 20060101ALI20211122BHEP

Ipc: C07K 16/28 20060101ALI20211122BHEP

Ipc: A61P 25/28 20060101ALI20211122BHEP

Ipc: A61K 31/4704 20060101ALI20211122BHEP

Ipc: A61K 31/277 20060101ALI20211122BHEP

Ipc: A61K 31/137 20060101AFI20211122BHEP

P01 Opt-out of the competence of the unified patent court (upc) registered

Effective date: 20230511