JP7258871B2 - 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 - Google Patents
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 Download PDFInfo
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| PCT/US2018/056304 WO2019079464A1 (en) | 2017-10-17 | 2018-10-17 | PLATFORM OF MOLECULAR EVIDENCE FOR CONTINUOUS AND VERIFY OPTIMIZATION OF INTERPRETATION OF VARIANTS IN TESTS AND GENETIC ANALYZES |
Publications (3)
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| JP2020537795A JP2020537795A (ja) | 2020-12-24 |
| JP2020537795A5 JP2020537795A5 (enExample) | 2021-07-26 |
| JP7258871B2 true JP7258871B2 (ja) | 2023-04-17 |
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| 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 |
| US10959277B2 (en) * | 2019-04-01 | 2021-03-23 | T-Mobile Usa, Inc. | Mobile device network performance restoration and improvement |
| US10764062B2 (en) * | 2019-06-03 | 2020-09-01 | Alibaba Group Holding Limited | Blockchain ledger compression |
| CN110602162B (zh) * | 2019-08-06 | 2022-11-01 | 苏州龙信信息科技有限公司 | 终端取证方法、装置、设备和存储介质 |
| CN110957006B (zh) * | 2019-12-14 | 2023-08-11 | 杭州联川基因诊断技术有限公司 | 一种brca1/2基因变异的解读方法 |
| CN112489812B (zh) * | 2020-11-30 | 2021-07-06 | 北京华彬立成科技有限公司 | 药物开发分析方法、装置、电子设备和存储介质 |
| US20230351337A1 (en) * | 2022-04-29 | 2023-11-02 | Bank Of America Corporation | Generating and securing digital checks using distributed ledger and embedded chip methods |
| US12211039B2 (en) * | 2022-09-20 | 2025-01-28 | Veiovia Limited | Externally validated proof of work for appending a block record to a blockchain with a data broker server |
| US11652650B1 (en) * | 2022-09-20 | 2023-05-16 | Veiovia Limited | Externally validated proof of work for appending a block record to a blockchain with a commitment database server |
| US12216661B2 (en) | 2022-09-20 | 2025-02-04 | Veiovia Ltd. | Externally validated proof of work for appending a block record to a blockchain with a mining node |
| WO2025115360A1 (ja) * | 2023-11-30 | 2025-06-05 | 富士フイルム株式会社 | 木構造生成方法、情報処理装置、情報処理システム、及び木構造生成プログラム |
| CN119719955B (zh) * | 2024-12-17 | 2025-09-05 | 四川大学华西医院 | 一种基于贝叶斯模型的证据优化方法、装置、计算机设备及存储介质 |
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| JP2000500647A (ja) | 1995-10-24 | 2000-01-25 | クレイジェン コーポレーション | 配列決定を行なわないでサンプル中のdna配列を同定、分類または定量する方法及び装置 |
| WO2016154584A1 (en) | 2015-03-26 | 2016-09-29 | Quest Diagnostics Investments Incorporated | Alignment and variant sequencing analysis pipeline |
| US20160306923A1 (en) | 2013-01-17 | 2016-10-20 | Edico Genome, Inc. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| US20170270212A1 (en) | 2016-03-21 | 2017-09-21 | Human Longevity, Inc. | Genomic, metabolomic, and microbiomic search engine |
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| US5780236A (en) | 1996-11-18 | 1998-07-14 | Wisconsin Alumni Research Foundation | Method for identifying mutants and molecules |
| US6949692B2 (en) | 1996-11-18 | 2005-09-27 | Wisconsin Alumni Research Foundation | Method for identifying mutants and molecules |
| US7135286B2 (en) | 2002-03-26 | 2006-11-14 | Perlegen Sciences, Inc. | Pharmaceutical and diagnostic business systems and methods |
| US20060223058A1 (en) * | 2005-04-01 | 2006-10-05 | Perlegen Sciences, Inc. | In vitro association studies |
| US7702468B2 (en) | 2006-05-03 | 2010-04-20 | Population Diagnostics, Inc. | Evaluating genetic disorders |
| WO2008033239A2 (en) | 2006-09-11 | 2008-03-20 | Applera | Genetic polymorphisms associated with psoriasis, methods of detection and uses thereof |
| KR101325736B1 (ko) * | 2010-10-27 | 2013-11-08 | 삼성에스디에스 주식회사 | 바이오 마커 추출 장치 및 방법 |
| US20130338012A1 (en) | 2010-11-18 | 2013-12-19 | Illumina Inc. | Genetic risk factors of sick sinus syndrome |
| WO2012155148A2 (en) | 2011-05-12 | 2012-11-15 | University Of Utah Research Foundation | Predicting gene variant pathogenicity |
| US8718950B2 (en) * | 2011-07-08 | 2014-05-06 | The Medical College Of Wisconsin, Inc. | Methods and apparatus for identification of disease associated mutations |
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| US20150025861A1 (en) * | 2013-07-17 | 2015-01-22 | The Johns Hopkins University | Genetic screening computing systems and methods |
| WO2015027085A1 (en) * | 2013-08-22 | 2015-02-26 | Genomoncology, Llc | Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein |
| US20160314245A1 (en) | 2014-06-17 | 2016-10-27 | Genepeeks, Inc. | Device, system and method for assessing risk of variant-specific gene dysfunction |
| CN106796620A (zh) * | 2014-06-30 | 2017-05-31 | 凯杰雷德伍德城公司 | 用于解释和报告基于序列的基因测试的方法和系统 |
| EP3189619B1 (en) * | 2014-09-03 | 2021-02-17 | NantOmics, LLC | Device, method and computer program product for synthetic genomic variant-based secure transaction |
| EP3286677A4 (en) * | 2015-04-22 | 2019-07-24 | Genepeeks, Inc. | DEVICE, SYSTEM AND METHOD FOR ASSESSING THE RISK OF VARIATION SPECIFIC GENDYS FUNCTION |
| US10185803B2 (en) | 2015-06-15 | 2019-01-22 | Deep Genomics Incorporated | Systems and methods for classifying, prioritizing and interpreting genetic variants and therapies using a deep neural network |
| 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 |
| US10978196B2 (en) * | 2018-10-17 | 2021-04-13 | Tempus Labs, Inc. | Data-based mental disorder research and treatment systems and methods |
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-
2018
- 2018-10-17 EP EP18868620.8A patent/EP3701534B1/en active Active
- 2018-10-17 BR BR112020007449-7A patent/BR112020007449A2/pt not_active Application Discontinuation
- 2018-10-17 CA CA3079389A patent/CA3079389A1/en active Pending
- 2018-10-17 US US16/162,889 patent/US11462299B2/en active Active
- 2018-10-17 JP JP2020522707A patent/JP7258871B2/ja active Active
- 2018-10-17 AU AU2018350975A patent/AU2018350975B2/en active Active
- 2018-10-17 WO PCT/US2018/056304 patent/WO2019079464A1/en not_active Ceased
- 2018-10-17 CN CN201880081247.7A patent/CN112074909B/zh active Active
- 2018-10-17 US US16/756,802 patent/US20200251179A1/en not_active Abandoned
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2022
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2023
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Patent Citations (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2000500647A (ja) | 1995-10-24 | 2000-01-25 | クレイジェン コーポレーション | 配列決定を行なわないでサンプル中のdna配列を同定、分類または定量する方法及び装置 |
| US20160306923A1 (en) | 2013-01-17 | 2016-10-20 | Edico Genome, Inc. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| WO2016154584A1 (en) | 2015-03-26 | 2016-09-29 | Quest Diagnostics Investments Incorporated | Alignment and variant sequencing analysis pipeline |
| US20170270212A1 (en) | 2016-03-21 | 2017-09-21 | Human Longevity, Inc. | Genomic, metabolomic, and microbiomic search engine |
Also Published As
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| US20230117854A1 (en) | 2023-04-20 |
| MX2020003709A (es) | 2020-07-22 |
| CN112074909A (zh) | 2020-12-11 |
| US20200251179A1 (en) | 2020-08-06 |
| US20190189246A1 (en) | 2019-06-20 |
| US11798651B2 (en) | 2023-10-24 |
| AU2018350975A1 (en) | 2020-05-07 |
| US11462299B2 (en) | 2022-10-04 |
| EP3701534A4 (en) | 2021-08-04 |
| JP2020537795A (ja) | 2020-12-24 |
| BR112020007449A2 (pt) | 2020-10-20 |
| US12136472B2 (en) | 2024-11-05 |
| CA3079389A1 (en) | 2019-04-25 |
| US20240006021A1 (en) | 2024-01-04 |
| IL274001A (en) | 2020-05-31 |
| AU2018350975B2 (en) | 2023-11-23 |
| EP3701534C0 (en) | 2024-04-10 |
| EP3701534B1 (en) | 2024-04-10 |
| CN112074909B (zh) | 2024-03-19 |
| EP3701534A1 (en) | 2020-09-02 |
| WO2019079464A1 (en) | 2019-04-25 |
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