JP2020537795A5 - - Google Patents
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- JP2020537795A5 JP2020537795A5 JP2020522707A JP2020522707A JP2020537795A5 JP 2020537795 A5 JP2020537795 A5 JP 2020537795A5 JP 2020522707 A JP2020522707 A JP 2020522707A JP 2020522707 A JP2020522707 A JP 2020522707A JP 2020537795 A5 JP2020537795 A5 JP 2020537795A5
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- 238000000034 method Methods 0.000 claims description 36
- 238000012550 audit Methods 0.000 claims description 23
- 238000012795 verification Methods 0.000 claims description 12
- 238000010200 validation analysis Methods 0.000 claims description 10
- 230000000694 effects Effects 0.000 claims description 8
- 230000004044 response Effects 0.000 claims description 8
- 238000010801 machine learning Methods 0.000 claims description 4
- 230000005540 biological transmission Effects 0.000 claims description 2
- 238000011156 evaluation Methods 0.000 claims description 2
- 238000010230 functional analysis Methods 0.000 claims description 2
- 238000004088 simulation Methods 0.000 claims description 2
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201762573458P | 2017-10-17 | 2017-10-17 | |
| US62/573,458 | 2017-10-17 | ||
| 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)
| Publication Number | Publication Date |
|---|---|
| JP2020537795A JP2020537795A (ja) | 2020-12-24 |
| JP2020537795A5 true JP2020537795A5 (enExample) | 2021-07-26 |
| JP7258871B2 JP7258871B2 (ja) | 2023-04-17 |
Family
ID=66174641
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2020522707A Active JP7258871B2 (ja) | 2017-10-17 | 2018-10-17 | 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 |
Country Status (10)
| Country | Link |
|---|---|
| US (4) | US11462299B2 (enExample) |
| EP (1) | EP3701534B1 (enExample) |
| JP (1) | JP7258871B2 (enExample) |
| CN (1) | CN112074909B (enExample) |
| AU (1) | AU2018350975B2 (enExample) |
| BR (1) | BR112020007449A2 (enExample) |
| CA (1) | CA3079389A1 (enExample) |
| IL (1) | IL274001A (enExample) |
| MX (1) | MX2020003709A (enExample) |
| WO (1) | WO2019079464A1 (enExample) |
Families Citing this family (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US11462299B2 (en) | 2017-10-17 | 2022-10-04 | 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 |
| EP4318267A4 (en) * | 2021-03-26 | 2025-01-22 | BGI Genomics Co., Limited | METHOD FOR CONSTRUCTING KNOWLEDGE BASE FOR INTERPRETATION OF DOCUMENTATION ON VARIATIONS, INTERPRETATION METHOD AND ELECTRONIC DEVICE |
| US20230351337A1 (en) * | 2022-04-29 | 2023-11-02 | Bank Of America Corporation | Generating and securing digital checks using distributed ledger and embedded chip methods |
| 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 |
| 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 |
| 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 |
Family Cites Families (32)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5972693A (en) | 1995-10-24 | 1999-10-26 | Curagen Corporation | Apparatus for identifying, classifying, or quantifying DNA sequences in a sample without sequencing |
| 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 |
| EP2639318B1 (en) | 2006-09-11 | 2015-04-08 | Celera Corporation | 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 |
| US20120310539A1 (en) | 2011-05-12 | 2012-12-06 | University Of Utah | 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 |
| US9773091B2 (en) * | 2011-10-31 | 2017-09-26 | The Scripps Research Institute | Systems and methods for genomic annotation and distributed variant interpretation |
| US20130179187A1 (en) | 2012-01-06 | 2013-07-11 | Molecular Health | Systems and methods for de-risking patient treatment |
| US20140089009A1 (en) * | 2012-09-27 | 2014-03-27 | Wobblebase, Inc. | Method for Personal Genome Data Management |
| US9792405B2 (en) * | 2013-01-17 | 2017-10-17 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| RU2664695C2 (ru) * | 2013-01-31 | 2018-08-21 | Кодексис, Инк. | Способы, системы и программное обеспечение для идентификации биомолекул с помощью моделей мультипликативной формы |
| BR112015022490A2 (pt) * | 2013-03-15 | 2017-07-18 | Veracyte Inc | métodos e composições para classificação de amostras |
| WO2014149972A1 (en) * | 2013-03-15 | 2014-09-25 | The Scripps Research Institute | Systems and methods for genomic annotation and distributed variant interpretation |
| US20160048633A1 (en) * | 2013-03-15 | 2016-02-18 | Cypher Genomics, Inc. | Systems and methods for genomic variant annotation |
| WO2014200348A1 (en) * | 2013-06-14 | 2014-12-18 | Keygene N.V. | Directed strategies for improving phenotypic traits |
| 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 |
| CA2953942C (en) * | 2014-06-30 | 2023-10-03 | QIAGEN Redwood City, Inc. | Methods and systems for interpretation and reporting of sequence-based genetic tests |
| AU2015311866B2 (en) * | 2014-09-03 | 2018-06-07 | Nant Holdings Ip, Llc | Synthetic genomic variant-based secure transaction devices, systems and methods |
| EP3274475B1 (en) * | 2015-03-26 | 2024-07-31 | Quest Diagnostics Investments Incorporated | Alignment and variant sequencing analysis pipeline |
| WO2016172464A1 (en) * | 2015-04-22 | 2016-10-27 | Genepeeks, Inc. | Device, system and method for assessing risk of variant-specific gene dysfunction |
| 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 |
| KR20180132713A (ko) * | 2016-03-21 | 2018-12-12 | 휴먼 롱제비티 인코포레이티드 | 게놈, 메타볼로믹, 및 미생물 검색 엔진 |
| US11462299B2 (en) | 2017-10-17 | 2022-10-04 | 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 |
| US20200121715A1 (en) | 2018-10-20 | 2020-04-23 | MC Technology Holdings, LLC | Composition comprising aqueous medium with reduced size water clusters to improve bioavailability of the aqueous medium and methods for making and using the compositions |
-
2018
- 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 US US16/756,802 patent/US20200251179A1/en not_active Abandoned
- 2018-10-17 BR BR112020007449-7A patent/BR112020007449A2/pt not_active Application Discontinuation
- 2018-10-17 CN CN201880081247.7A patent/CN112074909B/zh active Active
- 2018-10-17 AU AU2018350975A patent/AU2018350975B2/en active Active
- 2018-10-17 EP EP18868620.8A patent/EP3701534B1/en active Active
- 2018-10-17 CA CA3079389A patent/CA3079389A1/en active Pending
- 2018-10-17 MX MX2020003709A patent/MX2020003709A/es unknown
- 2018-10-17 WO PCT/US2018/056304 patent/WO2019079464A1/en not_active Ceased
-
2020
- 2020-04-16 IL IL274001A patent/IL274001A/en unknown
-
2022
- 2022-09-16 US US17/946,942 patent/US11798651B2/en active Active
-
2023
- 2023-09-14 US US18/368,375 patent/US12136472B2/en active Active
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