CN106796620A - 用于解释和报告基于序列的基因测试的方法和系统 - Google Patents

用于解释和报告基于序列的基因测试的方法和系统 Download PDF

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Publication number
CN106796620A
CN106796620A CN201580041322.3A CN201580041322A CN106796620A CN 106796620 A CN106796620 A CN 106796620A CN 201580041322 A CN201580041322 A CN 201580041322A CN 106796620 A CN106796620 A CN 106796620A
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China
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variant
patient
variants
information
user
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English (en)
Chinese (zh)
Inventor
小道格拉斯·E·巴斯特
丹尼尔·R·理查兹
皮尔·M·沙茨
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Qiagen GmbH
Kay Jay Reid Wu Decheng Co
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Qiagen GmbH
Kay Jay Reid Wu Decheng Co
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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, Kay Jay Reid Wu Decheng Co filed Critical Qiagen GmbH
Publication of CN106796620A publication Critical patent/CN106796620A/zh
Pending legal-status Critical Current

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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
    • 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
    • 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

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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)
CN201580041322.3A 2014-06-30 2015-06-18 用于解释和报告基于序列的基因测试的方法和系统 Pending CN106796620A (zh)

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 (1)

Publication Number Publication Date
CN106796620A true CN106796620A (zh) 2017-05-31

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CN201580041322.3A Pending CN106796620A (zh) 2014-06-30 2015-06-18 用于解释和报告基于序列的基因测试的方法和系统

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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=)

Cited By (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
CN110164504A (zh) * 2019-05-27 2019-08-23 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
CN111465990A (zh) * 2017-10-06 2020-07-28 皇家飞利浦有限公司 用于医疗保健临床试验的方法和系统
CN112074909A (zh) * 2017-10-17 2020-12-11 英维特公司 在基因和基因组测试与分析中用于对变体解释进行可审计地不断优化的分子证据平台
CN112292730A (zh) * 2018-06-29 2021-01-29 豪夫迈·罗氏有限公司 具有用于解释和可视化数据的改进的用户界面的计算设备
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
CN116508107A (zh) * 2020-12-03 2023-07-28 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

Families Citing this family (18)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN107533586A (zh) * 2015-03-23 2018-01-02 私有通道公司 用于加强生物信息学数据隐私和实现生物信息学数据广泛共享的系统、方法和设备
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
GB201716305D0 (en) * 2017-10-05 2017-11-22 Palantir Technologies Inc Dashboard creation and management
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
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
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
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
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
US20230207071A1 (en) * 2021-12-29 2023-06-29 Microsoft Technology Licensing, Llc Knowledge-grounded complete criteria generation
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

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
WO2013070634A1 (en) * 2011-11-07 2013-05-16 Ingenuity Systems, Inc. Methods and systems for identification of causal genomic variants
WO2013084121A2 (en) * 2011-12-05 2013-06-13 Koninklijke Philips Electronics N.V. Retroactive extraction of clinically relevant information from patient sequencing data for clinical decision support

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2001188876A (ja) * 1999-12-28 2001-07-10 Hiroshi Saito 薬品の製造方法、薬品の試験評価システム、および薬品の試験評価方法
JP2002041657A (ja) * 2000-07-27 2002-02-08 Toyotaka Mori 総合治験管理システム
US20020046054A1 (en) * 2000-08-28 2002-04-18 Morand Patrick G. Use of blood and plasma donor samples and data in the drug discovery process
JP2003108663A (ja) * 2001-09-28 2003-04-11 Gijutsu Transfer Service:Kk 治験情報管理システム、治験情報管理装置、治験情報管理方法、治験情報管理プログラム並びに記憶媒体
US20130218581A1 (en) * 2011-04-26 2013-08-22 Selventa, Inc. Stratifying patient populations through characterization of disease-driving signaling
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

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
WO2013070634A1 (en) * 2011-11-07 2013-05-16 Ingenuity Systems, Inc. Methods and systems for identification of causal genomic variants
WO2013084121A2 (en) * 2011-12-05 2013-06-13 Koninklijke Philips Electronics N.V. Retroactive extraction of clinically relevant information from patient sequencing data for clinical decision support

Cited By (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111465990A (zh) * 2017-10-06 2020-07-28 皇家飞利浦有限公司 用于医疗保健临床试验的方法和系统
CN111465990B (zh) * 2017-10-06 2023-09-12 皇家飞利浦有限公司 用于医疗保健临床试验的方法和系统
US11798651B2 (en) 2017-10-17 2023-10-24 Invitae Corporation Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
CN112074909A (zh) * 2017-10-17 2020-12-11 英维特公司 在基因和基因组测试与分析中用于对变体解释进行可审计地不断优化的分子证据平台
CN112074909B (zh) * 2017-10-17 2024-03-19 英维特公司 变体解释终端系统
US12136472B2 (en) 2017-10-17 2024-11-05 Laboratory Corporation Of America Holdings Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
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
CN112292730A (zh) * 2018-06-29 2021-01-29 豪夫迈·罗氏有限公司 具有用于解释和可视化数据的改进的用户界面的计算设备
CN112292730B (zh) * 2018-06-29 2024-01-26 豪夫迈·罗氏有限公司 具有用于解释和可视化数据的改进的用户界面的计算设备
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
CN110164504A (zh) * 2019-05-27 2019-08-23 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
CN116508107A (zh) * 2020-12-03 2023-07-28 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
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
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

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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
CA2953942C (en) 2023-10-03
JP2020184371A (ja) 2020-11-12
JP7343453B2 (ja) 2023-09-12
EP3916731A1 (en) 2021-12-01

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