CN109791795A - 用于协同变异选择和治疗匹配报告的方法和装置 - Google Patents

用于协同变异选择和治疗匹配报告的方法和装置 Download PDF

Info

Publication number
CN109791795A
CN109791795A CN201780060734.0A CN201780060734A CN109791795A CN 109791795 A CN109791795 A CN 109791795A CN 201780060734 A CN201780060734 A CN 201780060734A CN 109791795 A CN109791795 A CN 109791795A
Authority
CN
China
Prior art keywords
work
service provider
genomic
clinical
distortion
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.)
Pending
Application number
CN201780060734.0A
Other languages
English (en)
Chinese (zh)
Inventor
N·迪米特罗娃
R·所罗门
K·帕娅尔
M·达尼斯曼-塔沙尔
M·本特祖尔
N·沙拉比
S·尤希姆
A·R·曼科维赫
V·阿格拉瓦尔
J·古
I·弗里德曼
K·沃良斯基
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 Electronics 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 Electronics NV filed Critical Koninklijke Philips Electronics NV
Publication of CN109791795A publication Critical patent/CN109791795A/zh
Pending legal-status Critical Current

Links

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)
CN201780060734.0A 2016-09-29 2017-09-29 用于协同变异选择和治疗匹配报告的方法和装置 Pending CN109791795A (zh)

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 (1)

Publication Number Publication Date
CN109791795A true CN109791795A (zh) 2019-05-21

Family

ID=59974459

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201780060734.0A Pending CN109791795A (zh) 2016-09-29 2017-09-29 用于协同变异选择和治疗匹配报告的方法和装置

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=)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112509637A (zh) * 2019-09-16 2021-03-16 西门子医疗有限公司 用于交换关于基因组变异的临床意义的信息的方法和设备

Families Citing this family (6)

* 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
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 (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007055244A1 (ja) * 2005-11-08 2007-05-18 National University Corporation Nagoya University 遺伝子変異検出用アレイ及び検出方法
WO2012098515A1 (en) * 2011-01-19 2012-07-26 Koninklijke Philips Electronics N.V. Method for processing genomic data
WO2013070634A1 (en) * 2011-11-07 2013-05-16 Ingenuity Systems, Inc. Methods and systems for identification of causal genomic variants
US20140149485A1 (en) * 2012-11-26 2014-05-29 Accenture Global Services Limited Method and system for managing user state for applications deployed on platform as a service (paas) clouds
US20160124742A1 (en) * 2014-10-30 2016-05-05 Equinix, Inc. Microservice-based application development framework
WO2016100638A1 (en) * 2014-12-17 2016-06-23 Foundation Medicine, Inc. Computer-implemented system and method for identifying similar patients

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2003508853A (ja) * 1999-08-27 2003-03-04 アイリス・バイオ・テクノロジーズ・インコーポレイテッド 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
US8140270B2 (en) * 2007-03-22 2012-03-20 National Center For Genome Resources Methods and systems for medical sequencing analysis
US9418203B2 (en) * 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
HK1246419A1 (zh) * 2014-12-24 2018-09-07 Oncompass Gmbh 用於自适应医疗决策支持的系统和方法

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007055244A1 (ja) * 2005-11-08 2007-05-18 National University Corporation Nagoya University 遺伝子変異検出用アレイ及び検出方法
WO2012098515A1 (en) * 2011-01-19 2012-07-26 Koninklijke Philips Electronics N.V. Method for processing genomic data
WO2013070634A1 (en) * 2011-11-07 2013-05-16 Ingenuity Systems, Inc. Methods and systems for identification of causal genomic variants
US20140149485A1 (en) * 2012-11-26 2014-05-29 Accenture Global Services Limited Method and system for managing user state for applications deployed on platform as a service (paas) clouds
US20160124742A1 (en) * 2014-10-30 2016-05-05 Equinix, Inc. Microservice-based application development framework
WO2016100638A1 (en) * 2014-12-17 2016-06-23 Foundation Medicine, Inc. Computer-implemented system and method for identifying similar patients

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112509637A (zh) * 2019-09-16 2021-03-16 西门子医疗有限公司 用于交换关于基因组变异的临床意义的信息的方法和设备

Also Published As

Publication number Publication date
WO2018060485A1 (en) 2018-04-05
US20200020421A1 (en) 2020-01-16
EP3520007A1 (en) 2019-08-07
JP2019530098A (ja) 2019-10-17
WO2018060365A1 (en) 2018-04-05
US20190362807A1 (en) 2019-11-28

Similar Documents

Publication Publication Date Title
Quazi RETRACTED ARTICLE: Artificial intelligence and machine learning in precision and genomic medicine
US11594222B2 (en) Collaborative artificial intelligence method and system
Xiang et al. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
CN109791795A (zh) 用于协同变异选择和治疗匹配报告的方法和装置
Rockowitz et al. Children’s rare disease cohorts: an integrative research and clinical genomics initiative
Ono et al. RefEx, a reference gene expression dataset as a web tool for the functional analysis of genes
CN105095623B (zh) 疾病生物标志物的筛选分析方法、平台、服务器及系统
US10964410B2 (en) System and method for detecting gene fusion
Borchert et al. Knowledge bases and software support for variant interpretation in precision oncology
Driver et al. Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery
US20160070881A1 (en) System, method and graphical user interface for creating modular, patient transportable genomic analytic data
Zhao et al. So3D: a comprehensive three-dimensional spatial omics resource for decoding tissue architecture in physiology and disease
Benet‐Pagès et al. Variant interpretation: UCSC genome browser recommended track sets
Rashid et al. REDCap and the National Mesothelioma Virtual Bank—a scalable and sustainable model for rare disease biorepositories
Faria et al. Varstation: a complete and efficient tool to support NGS data analysis
Bienstock Data sharing advances rare and neglected disease clinical research and treatments
Salazar et al. Computational tools for parsimony phylogenetic analysis of omics data
Shameer et al. POEAS: automated plant phenomic analysis using plant ontology
CA3225678A1 (en) Systems and methods for providing accurate patient data corresponding with progression milestones for providing treatment options and outcome tracking
Joshi et al. Pharma-oncogenomics in the era of personal genomics: A quick Guide to online resources and tools
Wittowski et al. Evaluation of exome sequencing criteria for hospital stewardship and insurance authorization at a pediatric hospital
Li et al. A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis
US20240412878A1 (en) Personalized insights into tumor evolution and ai-based treatment decision support systems and methods
Zhou et al. Causal associations between neuroinflammation-related genes and intracerebral hemorrhage: an integrated study of Mendelian Randomization and gene functional analysis
Rodero et al. Striking the balance: Complexity, simplicity, and credibility in mathematical biology

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
WD01 Invention patent application deemed withdrawn after publication

Application publication date: 20190521

WD01 Invention patent application deemed withdrawn after publication