CA2953942C - Methods and systems for interpretation and reporting of sequence-based genetic tests - Google Patents

Methods and systems for interpretation and reporting of sequence-based genetic tests Download PDF

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Publication number
CA2953942C
CA2953942C CA2953942A CA2953942A CA2953942C CA 2953942 C CA2953942 C CA 2953942C CA 2953942 A CA2953942 A CA 2953942A CA 2953942 A CA2953942 A CA 2953942A CA 2953942 C CA2953942 C CA 2953942C
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patient
information
variant
clinical trial
modifier
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English (en)
French (fr)
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CA2953942A1 (en
Inventor
Douglas E. Bassett, Jr.
Daniel R. Richards
Peer M. Schatz
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Qiagen GmbH
Qiagen Redwood City Inc
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Qiagen GmbH
Qiagen Redwood City Inc
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Priority claimed from US14/319,986 external-priority patent/US10665328B2/en
Priority claimed from US14/460,568 external-priority patent/US10658073B2/en
Application filed by Qiagen GmbH, Qiagen Redwood City Inc filed Critical Qiagen GmbH
Publication of CA2953942A1 publication Critical patent/CA2953942A1/en
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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
    • 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
    • G16H10/20—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for electronic clinical trials or questionnaires
    • 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

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  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Evolutionary Biology (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Theoretical Computer Science (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Public Health (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
CA2953942A 2014-06-30 2015-06-18 Methods and systems for interpretation and reporting of sequence-based genetic tests Active CA2953942C (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US14/319,986 2014-06-30
US14/319,986 US10665328B2 (en) 2014-06-30 2014-06-30 Methods and systems for interpretation and reporting of sequence-based genetic tests
US14/460,568 US10658073B2 (en) 2014-08-15 2014-08-15 Methods and systems for interpretation and reporting of sequence-based genetic tests using pooled allele statistics
US14/460,568 2014-08-15
PCT/US2015/036338 WO2016003660A1 (en) 2014-06-30 2015-06-18 Methods and systems for interpretation and reporting of sequence-based genetic tests

Publications (2)

Publication Number Publication Date
CA2953942A1 CA2953942A1 (en) 2016-01-07
CA2953942C true CA2953942C (en) 2023-10-03

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
CA2953942A Active CA2953942C (en) 2014-06-30 2015-06-18 Methods and systems for interpretation and reporting of sequence-based genetic tests

Country Status (6)

Country Link
EP (2) EP3161698A1 (enExample)
JP (2) JP2017527050A (enExample)
CN (1) CN106796620A (enExample)
AU (1) AU2015284640B2 (enExample)
CA (1) CA2953942C (enExample)
WO (1) WO2016003660A1 (enExample)

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US12204845B2 (en) 2016-07-21 2025-01-21 Palantir Technologies Inc. Cached database and synchronization system for providing dynamic linked panels in user interface
US10324609B2 (en) 2016-07-21 2019-06-18 Palantir Technologies Inc. System for providing dynamic linked panels in user interface
US10719188B2 (en) 2016-07-21 2020-07-21 Palantir Technologies Inc. Cached database and synchronization system for providing dynamic linked panels in user interface
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WO2019068870A1 (en) * 2017-10-06 2019-04-11 Koninklijke Philips N.V. METHODS AND SYSTEMS FOR CLINICAL HEALTH CARE TRIALS
EP3701534B1 (en) 2017-10-17 2024-04-10 Invitae Corporation Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
JP6953270B2 (ja) * 2017-10-19 2021-10-27 キヤノンメディカルシステムズ株式会社 病院情報システム、及び薬剤提案選出プログラム
CN108364692A (zh) * 2018-02-27 2018-08-03 北京盛诺家医院管理咨询有限公司 临床试验匹配方法及系统
JP6920251B2 (ja) * 2018-06-29 2021-08-18 シスメックス株式会社 解析方法、情報処理装置、プログラム
US20200004928A1 (en) * 2018-06-29 2020-01-02 Roche Sequencing Solutions, Inc. Computing device with improved user interface for interpreting and visualizing data
CN110164504B (zh) * 2019-05-27 2021-04-02 复旦大学附属儿科医院 二代测序数据的处理方法、装置及电子设备
WO2020249704A1 (en) * 2019-06-13 2020-12-17 F. Hoffmann-La Roche Ag Systems and methods with improved user interface for interpreting and visualizing longitudinal data
US11004541B1 (en) * 2019-10-21 2021-05-11 Flatiron Health, Inc. Systems and methods for determining a genomic testing status
CN116508107B (zh) * 2020-12-03 2024-08-13 诺华股份有限公司 用于实现跨多个不同数据库的数据分析协作的协作平台
CN112992298B (zh) * 2021-02-10 2022-07-12 北京声智科技有限公司 一种异常识别方法、试管关联人员确定方法及相关设备
CN113724806A (zh) * 2021-08-03 2021-11-30 邢传华 确定临床试验入组对象、适用药物的方法、设备和介质
CN113793638B (zh) * 2021-11-15 2022-03-25 北京橡鑫生物科技有限公司 一种同源重组修复基因变异的解读方法
JP2023080642A (ja) * 2021-11-30 2023-06-09 シスメックス株式会社 遺伝子変異の病原性の水準を報告するレポートを生成するレポート生成方法、及びレポート生成装置
US20240363198A1 (en) * 2023-04-27 2024-10-31 Cardiai Technologies System for identifying genetic variants and method thereof
US20250061987A1 (en) * 2023-08-17 2025-02-20 Helix, Inc. System that integrates genomic data and electronic health record (ehr) data in defining a cohort
CN119993368A (zh) * 2025-01-16 2025-05-13 广州道本信息科技有限公司 一种基于自然语言处理的病理基因检测报告生成系统
JP7895599B1 (ja) * 2025-12-05 2026-07-28 株式会社日本ブレーン 臨床研究支援装置、臨床研究支援方法、及び、臨床研究支援プログラム

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Publication number Priority date Publication date Assignee Title
US20230207071A1 (en) * 2021-12-29 2023-06-29 Microsoft Technology Licensing, Llc Knowledge-grounded complete criteria generation

Also Published As

Publication number Publication date
CN106796620A (zh) 2017-05-31
WO2016003660A1 (en) 2016-01-07
JP7343453B2 (ja) 2023-09-12
EP3161698A1 (en) 2017-05-03
JP2017527050A (ja) 2017-09-14
AU2015284640B2 (en) 2021-01-28
JP2020184371A (ja) 2020-11-12
AU2015284640A1 (en) 2017-01-19
EP3916731A1 (en) 2021-12-01
CA2953942A1 (en) 2016-01-07

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