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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CA2953942A
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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 US10665328B2 (en) 2014-06-30 2014-06-30 Methods and systems for interpretation and reporting of sequence-based genetic tests
US14/319,986 2014-06-30
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

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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 (https=)
JP (2) JP2017527050A (https=)
CN (1) CN106796620A (https=)
AU (1) AU2015284640B2 (https=)
CA (1) CA2953942C (https=)
WO (1) WO2016003660A1 (https=)

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US20170242979A1 (en) * 2016-02-23 2017-08-24 Brody Holohan Method of performing clinical trials
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
US12204845B2 (en) 2016-07-21 2025-01-21 Palantir Technologies Inc. Cached database and synchronization system for providing dynamic linked panels in user interface
WO2018057359A1 (en) * 2016-09-21 2018-03-29 Agios Pharmaceuticals, Inc. Automated identification of potential drug safety events
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EP3692541A1 (en) * 2017-10-06 2020-08-12 Koninklijke Philips N.V. Methods and systems for healthcare clinical trials
JP7258871B2 (ja) 2017-10-17 2023-04-17 インビタエ コーポレイション 遺伝子及びゲノムの検査並びに分析におけるバリアント解釈の、監査可能な継続的な最適化のための分子エビデンスプラットフォーム
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
US20220310208A1 (en) * 2019-06-13 2022-09-29 Roche Sequencing Solutions, Inc. Systems and methods with improved user interface for interpreting and visualizing longitudinal
WO2021081116A1 (en) * 2019-10-21 2021-04-29 Flatiron Health, Inc. Systems and methods for determining a genomic testing status
EP4214716A4 (en) * 2020-12-03 2024-05-29 Novartis AG COLLABORATION PLATFORM TO ENABLE COLLABORATION IN DATA ANALYSIS ACROSS MULTIPLE DISCRETE DATABASES
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

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CN102067142A (zh) * 2008-02-26 2011-05-18 普渡研究基金会 用于患者基因分型的方法
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CN104094266A (zh) 2011-11-07 2014-10-08 独创系统公司 用于识别原因性基因组变体的方法和系统
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JP2016500689A (ja) * 2012-10-19 2016-01-14 シンタ ファーマシューティカルズ コーポレーション Ｈｓｐ９０阻害性化合物を用いた、多発性嚢胞腎疾患の治療

Cited By (1)

* Cited by examiner, † Cited by third party
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
EP3161698A1 (en) 2017-05-03
CA2953942A1 (en) 2016-01-07
AU2015284640A1 (en) 2017-01-19
JP2017527050A (ja) 2017-09-14
WO2016003660A1 (en) 2016-01-07
AU2015284640B2 (en) 2021-01-28
JP2020184371A (ja) 2020-11-12
JP7343453B2 (ja) 2023-09-12
EP3916731A1 (en) 2021-12-01
CN106796620A (zh) 2017-05-31

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