CN113039606A - 用于在系谱内进行系谱富集和基于家族的分析的方法和系统 - Google Patents

用于在系谱内进行系谱富集和基于家族的分析的方法和系统 Download PDF

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Publication number
CN113039606A
CN113039606A CN201980056868.4A CN201980056868A CN113039606A CN 113039606 A CN113039606 A CN 113039606A CN 201980056868 A CN201980056868 A CN 201980056868A CN 113039606 A CN113039606 A CN 113039606A
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pedigree
trait
enriched
patients
individual
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CN201980056868.4A
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English (en)
Chinese (zh)
Inventor
J·斯特普尔斯
C·贡萨加-雅鲁吉
J·里德
L·哈贝格
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Regeneron Pharmaceuticals Inc
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Regeneron Pharmaceuticals Inc
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Publication of CN113039606A publication Critical patent/CN113039606A/zh
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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)
CN201980056868.4A 2018-09-07 2019-09-06 用于在系谱内进行系谱富集和基于家族的分析的方法和系统 Pending CN113039606A (zh)

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
CN113039606A true CN113039606A (zh) 2021-06-25

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ID=67997715

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201980056868.4A Pending CN113039606A (zh) 2018-09-07 2019-09-06 用于在系谱内进行系谱富集和基于家族的分析的方法和系统

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

Citations (2)

* 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
US20170286594A1 (en) * 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic Variant-Phenotype Analysis System And Methods Of Use

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10347360B2 (en) * 2012-09-14 2019-07-09 Life Technologies Corporation Systems and methods for identifying sequence variation associated with genetic diseases
CA3075182A1 (en) 2017-09-07 2019-03-14 Regeneron Pharmaceuticals, Inc. Systems and methods for leveraging relatedness in genomic data analysis

Patent Citations (2)

* 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
US20170286594A1 (en) * 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic Variant-Phenotype Analysis System And Methods Of Use

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Publication number Publication date
AU2019335401A1 (en) 2021-03-11
MX2021002715A (es) 2021-05-12
JP2021536635A (ja) 2021-12-27
IL281176A (en) 2021-04-29
EP3847652A1 (en) 2021-07-14
CA3109961A1 (en) 2020-03-12
WO2020051445A1 (en) 2020-03-12
SG11202101669RA (en) 2021-03-30
KR20210055072A (ko) 2021-05-14
US20200082947A1 (en) 2020-03-12

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Application publication date: 20210625