JP2021536635A - 家系エンリッチメント及び家系内の家族ベース解析のための方法及びシステム - Google Patents

家系エンリッチメント及び家系内の家族ベース解析のための方法及びシステム Download PDF

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JP2021536635A
JP2021536635A JP2021512545A JP2021512545A JP2021536635A JP 2021536635 A JP2021536635 A JP 2021536635A JP 2021512545 A JP2021512545 A JP 2021512545A JP 2021512545 A JP2021512545 A JP 2021512545A JP 2021536635 A JP2021536635 A JP 2021536635A
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affected
individual
enriched
trait
pedigree
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ステープルズ、ジェフリー
ゴンザガ−ハウレギ、クラウディア
リード、ジェフリー
ハベガー、ルーカス
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Regeneron Pharmaceuticals Inc
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    • 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
    • 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
    • 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
    • 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
    • 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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  • Life Sciences & Earth Sciences (AREA)
  • Medical Informatics (AREA)
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  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Data Mining & Analysis (AREA)
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  • Genetics & Genomics (AREA)
  • Software Systems (AREA)
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  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
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  • 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)
JP2021512545A 2018-09-07 2019-09-06 家系エンリッチメント及び家系内の家族ベース解析のための方法及びシステム Withdrawn JP2021536635A (ja)

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 (2)

Publication Number Publication Date
JP2021536635A true JP2021536635A (ja) 2021-12-27
JP2021536635A5 JP2021536635A5 (https=) 2022-09-13

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JP2021512545A Withdrawn JP2021536635A (ja) 2018-09-07 2019-09-06 家系エンリッチメント及び家系内の家族ベース解析のための方法及びシステム

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

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AU2019335401A1 (en) 2021-03-11
MX2021002715A (es) 2021-05-12
CN113039606A (zh) 2021-06-25
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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