EP3773534A4 - Deep learning-based methods, devices, and systems for prenatal testing - Google Patents

Deep learning-based methods, devices, and systems for prenatal testing Download PDF

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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)
French (fr)
Other versions
EP3773534A1 (en
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/en
Publication of EP3773534A1 publication Critical patent/EP3773534A1/en
Publication of EP3773534A4 publication Critical patent/EP3773534A4/en
Pending legal-status Critical Current

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    • 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

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  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Theoretical Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Medical Informatics (AREA)
  • Software Systems (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • Evolutionary Computation (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Artificial Intelligence (AREA)
  • Mathematical Physics (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Computing Systems (AREA)
  • Computational Linguistics (AREA)
  • Epidemiology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Databases & Information Systems (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Bioethics (AREA)
  • Primary Health Care (AREA)
  • Psychiatry (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Computer Vision & Pattern Recognition (AREA)
EP19777591.9A 2018-03-30 2019-03-27 Deep learning-based methods, devices, and systems for prenatal testing Pending EP3773534A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862650879P 2018-03-30 2018-03-30
PCT/US2019/024416 WO2019191319A1 (en) 2018-03-30 2019-03-27 Deep learning-based methods, devices, and systems for prenatal testing

Publications (2)

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

Family

ID=74004617

Family Applications (1)

Application Number Title Priority Date Filing Date
EP19777591.9A Pending EP3773534A4 (en) 2018-03-30 2019-03-27 Deep learning-based methods, devices, and systems for prenatal testing

Country Status (2)

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

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 (en) * 2021-04-26 2021-07-09 四川大学 Microbial colony inspection method and system based on machine learning model
US11455487B1 (en) 2021-10-26 2022-09-27 Illumina Software, Inc. Intensity extraction and crosstalk attenuation using interpolation and adaptation for base calling
EP4374378A1 (en) * 2021-07-19 2024-05-29 Illumina, Inc. Specialist signal profilers for base calling
CN113969310B (en) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 Fetal DNA concentration evaluation method and application
CN113999900B (en) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 Method for evaluating fetal DNA concentration by using free DNA of pregnant woman and application
CN117999359A (en) * 2021-12-03 2024-05-07 深圳华大生命科学研究院 Method and device for identifying base of nucleic acid sample

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015183872A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
WO2016019042A1 (en) * 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2017136059A1 (en) * 2016-02-03 2017-08-10 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US20170342500A1 (en) * 2014-12-19 2017-11-30 Danmarks Tekniske Universitet Method for identification of tissue or organ localization of a tumour
WO2018057888A1 (en) * 2016-09-23 2018-03-29 Driver, Inc. Integrated systems and methods for automated processing and analysis of biological samples, clinical information processing and clinical trial matching

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015183872A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
WO2016019042A1 (en) * 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20170342500A1 (en) * 2014-12-19 2017-11-30 Danmarks Tekniske Universitet Method for identification of tissue or organ localization of a tumour
WO2017136059A1 (en) * 2016-02-03 2017-08-10 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
WO2018057888A1 (en) * 2016-09-23 2018-03-29 Driver, Inc. Integrated systems and methods for automated processing and analysis of biological samples, clinical information processing and clinical trial matching

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
CN112203648A (en) 2021-01-08
EP3773534A1 (en) 2021-02-17

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