CA3109961A1 - Methods and systems for pedigree enrichment and family-based analyses within pedigrees - Google Patents

Methods and systems for pedigree enrichment and family-based analyses within pedigrees Download PDF

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Publication number
CA3109961A1
CA3109961A1 CA3109961A CA3109961A CA3109961A1 CA 3109961 A1 CA3109961 A1 CA 3109961A1 CA 3109961 A CA3109961 A CA 3109961A CA 3109961 A CA3109961 A CA 3109961A CA 3109961 A1 CA3109961 A1 CA 3109961A1
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CA
Canada
Prior art keywords
pedigree
affected
trait
unaffected
enriched
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
CA3109961A
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English (en)
French (fr)
Inventor
Jeffrey STAPLES
Claudia GONZAGA-JAUREGUI
Jeffrey Reid
Lukas HABEGGER
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.)
Regeneron Pharmaceuticals Inc
Original Assignee
Regeneron Pharmaceuticals 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 Regeneron Pharmaceuticals Inc filed Critical Regeneron Pharmaceuticals Inc
Publication of CA3109961A1 publication Critical patent/CA3109961A1/en
Pending legal-status Critical Current

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    • 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
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/12—Computing arrangements based on biological models using genetic models
    • G06N3/126—Evolutionary algorithms, e.g. genetic algorithms or genetic programming
    • 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
    • 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
    • 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
    • G16H50/80—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for detecting, monitoring or modelling epidemics or pandemics, e.g. flu
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

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  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Medical Informatics (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Data Mining & Analysis (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Software Systems (AREA)
  • Databases & Information Systems (AREA)
  • Evolutionary Computation (AREA)
  • Artificial Intelligence (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Mathematical Physics (AREA)
  • Physiology (AREA)
  • Computing Systems (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Computational Linguistics (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Measurement Of The Respiration, Hearing Ability, Form, And Blood Characteristics Of Living Organisms (AREA)
CA3109961A 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees Pending CA3109961A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862728536P 2018-09-07 2018-09-07
US62/728,536 2018-09-07
PCT/US2019/049942 WO2020051445A1 (en) 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees

Publications (1)

Publication Number Publication Date
CA3109961A1 true CA3109961A1 (en) 2020-03-12

Family

ID=67997715

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3109961A Pending CA3109961A1 (en) 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees

Country Status (11)

Country Link
US (1) US20200082947A1 (https=)
EP (1) EP3847652A1 (https=)
JP (1) JP2021536635A (https=)
KR (1) KR20210055072A (https=)
CN (1) CN113039606A (https=)
AU (1) AU2019335401A1 (https=)
CA (1) CA3109961A1 (https=)
IL (1) IL281176A (https=)
MX (1) MX2021002715A (https=)
SG (1) SG11202101669RA (https=)
WO (1) WO2020051445A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113368247B (zh) * 2021-05-25 2022-02-08 中国人民解放军军事科学院军事医学研究院 一种hoip抑制剂用于制备治疗ii型人毛细血管扩张症药物的应用

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008018789A2 (en) * 2006-08-08 2008-02-14 Leiden University Medical Center Methods and means for diagnosing and treatment of osteoarthritis
US10347360B2 (en) * 2012-09-14 2019-07-09 Life Technologies Corporation Systems and methods for identifying sequence variation associated with genetic diseases
WO2017172958A1 (en) * 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic variant-phenotype analysis system and methods of use
CA3075182A1 (en) 2017-09-07 2019-03-14 Regeneron Pharmaceuticals, Inc. Systems and methods for leveraging relatedness in genomic data analysis

Also Published As

Publication number Publication date
AU2019335401A1 (en) 2021-03-11
MX2021002715A (es) 2021-05-12
CN113039606A (zh) 2021-06-25
JP2021536635A (ja) 2021-12-27
IL281176A (en) 2021-04-29
EP3847652A1 (en) 2021-07-14
WO2020051445A1 (en) 2020-03-12
SG11202101669RA (en) 2021-03-30
KR20210055072A (ko) 2021-05-14
US20200082947A1 (en) 2020-03-12

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