JP2017527050A - 配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム - Google Patents

配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム Download PDF

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JP2017527050A
JP2017527050A JP2017521064A JP2017521064A JP2017527050A JP 2017527050 A JP2017527050 A JP 2017527050A JP 2017521064 A JP2017521064 A JP 2017521064A JP 2017521064 A JP2017521064 A JP 2017521064A JP 2017527050 A JP2017527050 A JP 2017527050A
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ダグラス， イー． ジュニア． バセット，
ダグラス， イー． ジュニア． バセット，
ダニエル， アール． リチャーズ，
ダニエル， アール． リチャーズ，
ピアー， エム． シャッツ，
ピアー， エム． シャッツ，
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Qiagen Redwood City Inc
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Qiagen Redwood City Inc
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Priority claimed from US14/460,568 external-priority patent/US10658073B2/en
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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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JP2017521064A 2014-06-30 2015-06-18 配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム Pending JP2017527050A (ja)

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JP2020122812A JP7343453B2 (ja) 2014-06-30 2020-07-17 配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム

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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

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JP2020122812A Active JP7343453B2 (ja) 2014-06-30 2020-07-17 配列に基づいた遺伝子検査の解釈および報告のための方法およびシステム

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EP (2) EP3161698A1 (https=)
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JP2019075046A (ja) * 2017-10-19 2019-05-16 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
JP2020000198A (ja) * 2018-06-29 2020-01-09 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
JP2021530052A (ja) * 2018-06-29 2021-11-04 エフ．ホフマン−ラ ロシュ アーゲーＦ． Ｈｏｆｆｍａｎｎ−Ｌａ Ｒｏｃｈｅ Ａｋｔｉｅｎｇｅｓｅｌｌｓｃｈａｆｔ データを解釈および視覚化用の改善されたユーザインターフェースを備えたコンピューティング装置
JP2022535951A (ja) * 2019-06-13 2022-08-10 エフ．ホフマン－ラ ロシュ アーゲー 縦方向データを解釈して視覚化するための改善されたユーザインタフェースを有するシステムおよび方法
JP2023036575A (ja) * 2019-10-21 2023-03-14 フラティロン ヘルス，インコーポレイテッド ゲノムテストステータスを特定するシステム及び方法
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

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US20170242979A1 (en) * 2016-02-23 2017-08-24 Brody Holohan Method of performing clinical trials
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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
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
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
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
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
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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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Cited By (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2019075046A (ja) * 2017-10-19 2019-05-16 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
JP2020000198A (ja) * 2018-06-29 2020-01-09 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
JP2021530052A (ja) * 2018-06-29 2021-11-04 エフ．ホフマン−ラ ロシュ アーゲーＦ． Ｈｏｆｆｍａｎｎ−Ｌａ Ｒｏｃｈｅ Ａｋｔｉｅｎｇｅｓｅｌｌｓｃｈａｆｔ データを解釈および視覚化用の改善されたユーザインターフェースを備えたコンピューティング装置
JP7189239B2 (ja) 2018-06-29 2022-12-13 エフ．ホフマン－ラ ロシュ アーゲー データを解釈および視覚化用の改善されたユーザインターフェースを備えたコンピューティング装置
JP2022535951A (ja) * 2019-06-13 2022-08-10 エフ．ホフマン－ラ ロシュ アーゲー 縦方向データを解釈して視覚化するための改善されたユーザインタフェースを有するシステムおよび方法
JP7462685B2 (ja) 2019-06-13 2024-04-05 エフ． ホフマン－ラ ロシュ アーゲー 縦方向データを解釈して視覚化するための改善されたユーザインタフェースを有するシステムおよび方法
JP2023036575A (ja) * 2019-10-21 2023-03-14 フラティロン ヘルス，インコーポレイテッド ゲノムテストステータスを特定するシステム及び方法
JP7482972B2 (ja) 2019-10-21 2024-05-14 フラティロン ヘルス，インコーポレイテッド ゲノムテストステータスを特定するシステム及び方法
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

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EP3161698A1 (en) 2017-05-03
CA2953942A1 (en) 2016-01-07
AU2015284640A1 (en) 2017-01-19
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
CN106796620A (zh) 2017-05-31

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