EP4022646A4 - A prioritization and scoring method - Google Patents

A prioritization and scoring method Download PDF

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Publication number
EP4022646A4
EP4022646A4 EP20907928.4A EP20907928A EP4022646A4 EP 4022646 A4 EP4022646 A4 EP 4022646A4 EP 20907928 A EP20907928 A EP 20907928A EP 4022646 A4 EP4022646 A4 EP 4022646A4
Authority
EP
European Patent Office
Prior art keywords
prioritization
scoring method
scoring
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
EP20907928.4A
Other languages
German (de)
French (fr)
Other versions
EP4022646A1 (en
Inventor
Kazim Kivanç EREN
Ya mur Ceren DARDA AN
Orçun TA AR
Muhammed AKTOLUN
Esra ÇINAR
Irmak TÜRKO LU ÖZTORUN
Cüneyt Öksüz
Bahadir ONAY
Hüseyin ONAY
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.)
Idea Teknoloji Coezuemleri Bilgisayar Sanayi Ve Ticaret AS
Original Assignee
Idea Teknoloji Coezuemleri Bilgisayar Sanayi Ve Ticaret AS
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 Idea Teknoloji Coezuemleri Bilgisayar Sanayi Ve Ticaret AS filed Critical Idea Teknoloji Coezuemleri Bilgisayar Sanayi Ve Ticaret AS
Publication of EP4022646A1 publication Critical patent/EP4022646A1/en
Publication of EP4022646A4 publication Critical patent/EP4022646A4/en
Pending legal-status Critical Current

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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
    • 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
    • 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
    • G16H40/00—ICT specially adapted for the management or administration of healthcare resources or facilities; ICT specially adapted for the management or operation of medical equipment or devices
    • G16H40/20—ICT specially adapted for the management or administration of healthcare resources or facilities; ICT specially adapted for the management or operation of medical equipment or devices for the management or administration of healthcare resources or facilities, e.g. managing hospital staff or surgery rooms

Landscapes

  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Biophysics (AREA)
  • Epidemiology (AREA)
  • Business, Economics & Management (AREA)
  • Biotechnology (AREA)
  • Public Health (AREA)
  • Evolutionary Biology (AREA)
  • General Business, Economics & Management (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Data Mining & Analysis (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (AREA)
  • Databases & Information Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Biomedical Technology (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
EP20907928.4A 2019-12-25 2020-12-24 A prioritization and scoring method Pending EP4022646A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
TR201921589 2019-12-25
PCT/TR2020/051374 WO2021133351A1 (en) 2019-12-25 2020-12-24 A prioritization and scoring method

Publications (2)

Publication Number Publication Date
EP4022646A1 EP4022646A1 (en) 2022-07-06
EP4022646A4 true EP4022646A4 (en) 2022-11-02

Family

ID=76576076

Family Applications (1)

Application Number Title Priority Date Filing Date
EP20907928.4A Pending EP4022646A4 (en) 2019-12-25 2020-12-24 A prioritization and scoring method

Country Status (2)

Country Link
EP (1) EP4022646A4 (en)
WO (1) WO2021133351A1 (en)

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20160357903A1 (en) * 2013-09-20 2016-12-08 University Of Washington Through Its Center For Commercialization A framework for determining the relative effect of genetic variants

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DK2764459T3 (en) * 2011-10-06 2021-08-23 Sequenom Inc METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
WO2019148141A1 (en) * 2018-01-26 2019-08-01 The Trustees Of Princeton University Methods for analyzing genetic data to classify multifactorial traits including complex medical disorders
CN109295198A (en) * 2018-09-03 2019-02-01 安吉康尔（深圳）科技有限公司 For detecting the method, apparatus and terminal device of genetic disease genetic mutation

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20160357903A1 (en) * 2013-09-20 2016-12-08 University Of Washington Through Its Center For Commercialization A framework for determining the relative effect of genetic variants

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
IMANE BOUDELLIOUA ET AL: "DeepPVP: phenotype-based prioritization of causative variants using deep learning", BMC BIOINFORMATICS, BIOMED CENTRAL LTD, LONDON, UK, vol. 20, no. 1, 6 February 2019 (2019-02-06), pages 1 - 8, XP021269973, DOI: 10.1186/S12859-019-2633-8 *
See also references of WO2021133351A1 *

Also Published As

Publication number Publication date
WO2021133351A1 (en) 2021-07-01
EP4022646A1 (en) 2022-07-06

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