JP2019530098A - 協調的な変異選択及び治療合致レポートのための方法及び装置 - Google Patents

協調的な変異選択及び治療合致レポートのための方法及び装置 Download PDF

Info

Publication number
JP2019530098A
JP2019530098A JP2019516412A JP2019516412A JP2019530098A JP 2019530098 A JP2019530098 A JP 2019530098A JP 2019516412 A JP2019516412 A JP 2019516412A JP 2019516412 A JP2019516412 A JP 2019516412A JP 2019530098 A JP2019530098 A JP 2019530098A
Authority
JP
Japan
Prior art keywords
service provider
clinical
job
workflow
genomic
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Ceased
Application number
JP2019516412A
Other languages
English (en)
Japanese (ja)
Other versions
JP2019530098A5 (https=
Inventor
ネヴェンカ ディミトロヴァ
ネヴェンカ ディミトロヴァ
ローネン ソロモン
ローネン ソロモン
ケスワルプ パヤル
ケスワルプ パヤル
タサール ミネ ダニスマン
タサール ミネ ダニスマン
モラン ベンツル
モラン ベンツル
ナダヴ シャラビ
ナダヴ シャラビ
セルゲイ ユッシム
セルゲイ ユッシム
アレクサンデル ライアン マンコヴィチ
アレクサンデル ライアン マンコヴィチ
ヴァルティカ アグラワイ
ヴァルティカ アグラワイ
ジュリー グゥ
ジュリー グゥ
イリヤ フリードマン
イリヤ フリードマン
コスチャンティン ヴォリヤンスキー
コスチャンティン ヴォリヤンスキー
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Koninklijke Philips NV
Original Assignee
Koninklijke Philips NV
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Koninklijke Philips NV filed Critical Koninklijke Philips NV
Publication of JP2019530098A publication Critical patent/JP2019530098A/ja
Publication of JP2019530098A5 publication Critical patent/JP2019530098A5/ja
Ceased legal-status Critical Current

Links

Images

Classifications

    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly
    • 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
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/50—Compression of genetic data
    • 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

Landscapes

  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Bioethics (AREA)
  • Databases & Information Systems (AREA)
  • Molecular Biology (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Public Health (AREA)
  • Data Mining & Analysis (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
JP2019516412A 2016-09-29 2017-09-29 協調的な変異選択及び治療合致レポートのための方法及び装置 Ceased JP2019530098A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662401319P 2016-09-29 2016-09-29
US62/401,319 2016-09-29
PCT/EP2017/074886 WO2018060485A1 (en) 2016-09-29 2017-09-29 A method and apparatus for collaborative variant selection and therapy matching reporting

Publications (2)

Publication Number Publication Date
JP2019530098A true JP2019530098A (ja) 2019-10-17
JP2019530098A5 JP2019530098A5 (https=) 2020-11-05

Family

ID=59974459

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2019516412A Ceased JP2019530098A (ja) 2016-09-29 2017-09-29 協調的な変異選択及び治療合致レポートのための方法及び装置

Country Status (5)

Country Link
US (2) US20190362807A1 (https=)
EP (1) EP3520007A1 (https=)
JP (1) JP2019530098A (https=)
CN (1) CN109791795A (https=)
WO (2) WO2018060365A1 (https=)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20180166170A1 (en) * 2016-12-12 2018-06-14 Konstantinos Theofilatos Generalized computational framework and system for integrative prediction of biomarkers
JP6953586B2 (ja) * 2019-06-19 2021-10-27 シスメックス株式会社 患者検体の核酸配列の解析方法、解析結果の提示方法、提示装置、提示プログラム、及び患者検体の核酸配列の解析システム
WO2021046461A1 (en) * 2019-09-05 2021-03-11 Fabric Genomics, Inc. Methods of analyzing genetic variants based on genetic material
EP3792923A1 (en) * 2019-09-16 2021-03-17 Siemens Healthcare GmbH Method and device for exchanging information regarding the clinical implications of genomic variations
US11593188B2 (en) * 2020-06-29 2023-02-28 Vmware, Inc. Method and apparatus for providing asynchronicity to microservice application programming interfaces
CN113223612B (zh) * 2021-04-30 2024-08-02 阿里巴巴达摩院(杭州)科技有限公司 基因组的特征提取方法
US12211595B2 (en) * 2021-05-28 2025-01-28 Objectivehealth, Inc. System and method for identifying candidates for clinical trials

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2005309836A (ja) * 2004-04-22 2005-11-04 Link Genomics Kk がん診断支援システム
US20160224760A1 (en) * 2014-12-24 2016-08-04 Oncompass Gmbh System and method for adaptive medical decision support
JP2016154042A (ja) * 1999-08-27 2016-08-25 アイリス バイオテクノロジーズ インコーポレイテッドＩｒｉｓ Ｂｉｏｔｅｃｈｎｏｌｏｇｉｅｓ Ｉｎｃ． 遺伝子分析用人工知能システム

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JPWO2007055244A1 (ja) * 2005-11-08 2009-04-30 国立大学法人名古屋大学 遺伝子変異検出用アレイ及び検出方法
US8140270B2 (en) * 2007-03-22 2012-03-20 National Center For Genome Resources Methods and systems for medical sequencing analysis
CN111192634A (zh) * 2011-01-19 2020-05-22 皇家飞利浦电子股份有限公司 用于处理基因组数据的方法
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
US9635088B2 (en) * 2012-11-26 2017-04-25 Accenture Global Services Limited Method and system for managing user state for applications deployed on platform as a service (PaaS) clouds
US9418203B2 (en) * 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
US10230571B2 (en) * 2014-10-30 2019-03-12 Equinix, Inc. Microservice-based application development framework
EP3234841A4 (en) * 2014-12-17 2018-08-29 Foundation Medicine, Inc. Computer-implemented system and method for identifying similar patients

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2016154042A (ja) * 1999-08-27 2016-08-25 アイリス バイオテクノロジーズ インコーポレイテッドＩｒｉｓ Ｂｉｏｔｅｃｈｎｏｌｏｇｉｅｓ Ｉｎｃ． 遺伝子分析用人工知能システム
JP2005309836A (ja) * 2004-04-22 2005-11-04 Link Genomics Kk がん診断支援システム
US20160224760A1 (en) * 2014-12-24 2016-08-04 Oncompass Gmbh System and method for adaptive medical decision support

Also Published As

Publication number Publication date
CN109791795A (zh) 2019-05-21
WO2018060485A1 (en) 2018-04-05
US20200020421A1 (en) 2020-01-16
EP3520007A1 (en) 2019-08-07
WO2018060365A1 (en) 2018-04-05
US20190362807A1 (en) 2019-11-28

Similar Documents

Publication Publication Date Title
US12062372B2 (en) Collaborative artificial intelligence method and system
Rockowitz et al. Children’s rare disease cohorts: an integrative research and clinical genomics initiative
Buske et al. PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
Aronson et al. Building the foundation for genomics in precision medicine
JP2019530098A (ja) 協調的な変異選択及び治療合致レポートのための方法及び装置
Bowdin et al. The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine
US20230110360A1 (en) Systems and methods for access management and clustering of genomic, phenotype, and diagnostic data
Riggs et al. T owards a U niversal C linical G enomics D atabase: The 2012 I nternational S tandards for C ytogenomic A rrays C onsortium M eeting
Anderson et al. Personalised analytics for rare disease diagnostics
Townend et al. MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases
Seaby et al. A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Driver et al. Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery
Stark et al. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Costanzo et al. Realizing the promise of genome-wide association studies for effector gene prediction
Reyes Román et al. Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula: JF Reyes Román et al.
Shen et al. MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis
Faria et al. Varstation: a complete and efficient tool to support NGS data analysis
Krämer et al. Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
Verrou et al. Protocol for unbiased, consolidated variant calling from whole exome sequencing data
WO2023164652A9 (en) Distributed genetic testing systems utilizing secure gateway systems and next-generation sequencing assays
Sabik et al. A computational approach for identification of core modules from a co-expression network and GWAS data
Fredrich et al. VarWatch—A stand-alone software tool for variant matching
WO2023287920A9 (en) Systems and methods for providing accurate patient data corresponding with progression milestones for providing treatment options and outcome tracking
Bompotas et al. DiscMycoVir: a user-friendly platform for discovering mycoviruses in fungal transcriptomes
Furness Bridging the gap: the need for genomic and clinical-omics data integration and standardization in overcoming the bottleneck of variant interpretation

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20200917

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20200917

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20210924

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20211005

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20211115

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220328

A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20220526

A045 Written measure of dismissal of application [lapsed due to lack of payment]

Free format text: JAPANESE INTERMEDIATE CODE: A045

Effective date: 20220922