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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Chinese (zh)
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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)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Data Mining & Analysis (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (AREA)
  • Databases & Information Systems (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Computational Linguistics (AREA)
  • Mathematical Physics (AREA)
  • General Engineering & Computer Science (AREA)
  • Computing Systems (AREA)
  • General Physics & Mathematics (AREA)
  • Physiology (AREA)
  • Pathology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (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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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 (enExample)
EP (1) EP3847652A1 (enExample)
JP (1) JP2021536635A (enExample)
KR (1) KR20210055072A (enExample)
CN (1) CN113039606A (enExample)
AU (1) AU2019335401A1 (enExample)
CA (1) CA3109961A1 (enExample)
IL (1) IL281176A (enExample)
MX (1) MX2021002715A (enExample)
SG (1) SG11202101669RA (enExample)
WO (1) WO2020051445A1 (enExample)

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
CN117746978A (zh) 2017-09-07 2024-03-22 瑞泽恩制药公司 用于利用基因组数据分析中的亲缘关系的系统和方法

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

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Application publication date: 20210625