EP2776962A4 - Procédés et systèmes pour l'identification de variants génomiques causals - Google Patents

Procédés et systèmes pour l'identification de variants génomiques causals

Info

Publication number
EP2776962A4
EP2776962A4 EP12847098.6A EP12847098A EP2776962A4 EP 2776962 A4 EP2776962 A4 EP 2776962A4 EP 12847098 A EP12847098 A EP 12847098A EP 2776962 A4 EP2776962 A4 EP 2776962A4
Authority
EP
European Patent Office
Prior art keywords
identification
systems
methods
genomic variants
causal
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
EP12847098.6A
Other languages
German (de)
English (en)
Other versions
EP2776962A1 (fr
Inventor
Douglas E Bassett Jr
Daniel R Richards
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.)
Qiagen Redwood City Inc
Original Assignee
Ingenuity Systems Inc
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 Ingenuity Systems Inc filed Critical Ingenuity Systems Inc
Priority to EP20197880.6A priority Critical patent/EP3836149A1/fr
Publication of EP2776962A1 publication Critical patent/EP2776962A1/fr
Publication of EP2776962A4 publication Critical patent/EP2776962A4/fr
Ceased legal-status Critical Current

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/30Detection of binding sites or motifs
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/10Ontologies; Annotations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
EP12847098.6A 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals Ceased EP2776962A4 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
EP20197880.6A EP3836149A1 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161556599P 2011-11-07 2011-11-07
US201161556758P 2011-11-07 2011-11-07
PCT/US2012/063753 WO2013070634A1 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals

Related Child Applications (1)

Application Number Title Priority Date Filing Date
EP20197880.6A Division EP3836149A1 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals

Publications (2)

Publication Number Publication Date
EP2776962A1 EP2776962A1 (fr) 2014-09-17
EP2776962A4 true EP2776962A4 (fr) 2015-12-02

Family

ID=48290486

Family Applications (2)

Application Number Title Priority Date Filing Date
EP12847098.6A Ceased EP2776962A4 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals
EP20197880.6A Pending EP3836149A1 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals

Family Applications After (1)

Application Number Title Priority Date Filing Date
EP20197880.6A Pending EP3836149A1 (fr) 2011-11-07 2012-11-06 Procédés et systèmes pour l'identification de variants génomiques causals

Country Status (6)

Country Link
EP (2) EP2776962A4 (fr)
JP (2) JP2015501974A (fr)
CN (2) CN104094266A (fr)
AU (3) AU2012335955A1 (fr)
CA (1) CA2854832C (fr)
WO (1) WO2013070634A1 (fr)

Families Citing this family (53)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9773091B2 (en) 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US20140088942A1 (en) * 2012-09-27 2014-03-27 Ambry Genetics Molecular genetic diagnostic system
WO2014149972A1 (fr) 2013-03-15 2014-09-25 The Scripps Research Institute Systèmes et procédés pour l'annotation génomique et l'interprétation de variant distribué
US11342048B2 (en) 2013-03-15 2022-05-24 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US9418203B2 (en) 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
US20160154928A1 (en) * 2013-07-12 2016-06-02 Immuneering Corporation Systems, methods, and environment for automated review of genomic data to identify downregulated and/or upregulated gene expression indicative of a disease or condition
US20150095064A1 (en) * 2013-09-27 2015-04-02 Orbicule Bvba Method for Storage and Communication of Personal Genomic or Medical Information
JP2017527050A (ja) 2014-06-30 2017-09-14 キアゲン レッドウッド シティ, インコーポレイテッドQiagen Redwood City, Inc. 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
US10658073B2 (en) * 2014-08-15 2020-05-19 QIAGEN Redwood City, Inc. Methods and systems for interpretation and reporting of sequence-based genetic tests using pooled allele statistics
US10665328B2 (en) 2014-06-30 2020-05-26 QIAGEN Redwood City, Inc. Methods and systems for interpretation and reporting of sequence-based genetic tests
WO2016145516A1 (fr) 2015-03-13 2016-09-22 Deep Genomics Incorporated Système et procédé d'apprentissage de réseaux neuronaux
EP3274890A4 (fr) * 2015-03-23 2019-03-13 Private Access Inc. Système, procédé et appareil pour améliorer la confidentialité et permettre un partage étendu de données bioinformatiques
US9811552B1 (en) * 2015-04-20 2017-11-07 Color Genomics, Inc. Detecting and bucketing sparse indicators for communication generation
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
US20180218116A1 (en) * 2015-07-29 2018-08-02 Koninklijke Philips N.V. Systems and methods for prioritizing variants of unknown significance
WO2017025925A1 (fr) * 2015-08-11 2017-02-16 Stellenbosch University Procédé et système de filtrage de variants de séquence exomique complète
US20170183648A1 (en) * 2015-08-12 2017-06-29 Quick Biology, Inc. Method, kit and array for functional validation of results derived from high throughput studies
US10860947B2 (en) * 2015-12-17 2020-12-08 Microsoft Technology Licensing, Llc Variations in experiment graphs for machine learning
JP6821693B2 (ja) 2016-02-29 2021-01-27 ジェネンテック, インコーポレイテッド がんのための治療方法及び診断方法
EP3423488A4 (fr) 2016-02-29 2019-11-06 Foundation Medicine, Inc. Méthodes de traitement du cancer
CN114959918A (zh) * 2016-02-29 2022-08-30 基础医疗股份有限公司 用于评估肿瘤突变负荷的方法和系统
CN106407742B (zh) * 2016-08-26 2018-09-14 赵毅 一种基于多层复杂网络筛选肿瘤蛋白质标志物的方法
FR3055994B1 (fr) 2016-09-12 2019-10-11 Universite Paris Descartes Procede de traitement de donnees issues d'un sequencage haut debit pour traiter/analyser les sequences d'acides nucleiques correspondant a l'exome ou au genome de plusieurs echantillons biologiques
US20190362807A1 (en) * 2016-09-29 2019-11-28 Koninklijke Philips N.V. Genomic variant ranking system for clinical trial matching
KR20190072528A (ko) 2016-10-06 2019-06-25 제넨테크, 인크. 암에 대한 치료 및 진단 방법
US20200042735A1 (en) * 2016-10-11 2020-02-06 Genomsys Sa Method and system for selective access of stored or transmitted bioinformatics data
US20190348149A1 (en) * 2016-11-16 2019-11-14 Illumina, Inc. Validation methods and systems for sequence variant calls
CN107025387B (zh) * 2017-03-29 2020-09-18 电子科技大学 一种用于癌症生物标志物识别的方法
JPWO2019009431A1 (ja) * 2017-07-07 2020-05-21 株式会社Dnaチップ研究所 腫瘍細胞で生じた突然変異を高精度に識別する方法
JP2020527351A (ja) 2017-07-21 2020-09-10 ジェネンテック, インコーポレイテッド がんの治療法及び診断法
EP3622520A1 (fr) 2017-10-16 2020-03-18 Illumina, Inc. Techniques basées sur l'apprentissage profond d'apprentissage de réseaux neuronaux à convolution profonde
US11861491B2 (en) 2017-10-16 2024-01-02 Illumina, Inc. Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
CN108009408A (zh) * 2017-12-04 2018-05-08 山东浪潮通软信息科技有限公司 一种权限管理方法、装置、可读介质及存储控制器
US11378544B2 (en) 2018-01-08 2022-07-05 Illumina, Inc. High-throughput sequencing with semiconductor-based detection
SG11201911784PA (en) 2018-01-08 2020-01-30 Illumina Inc Systems and devices for high-throughput sequencing with semiconductor-based detection
CN108763864B (zh) * 2018-05-04 2021-06-29 温州大学 一种评价生物通路样本状态的方法
CN108763862B (zh) * 2018-05-04 2021-06-29 温州大学 一种推导基因通路活性的方法
US20200004928A1 (en) * 2018-06-29 2020-01-02 Roche Sequencing Solutions, Inc. Computing device with improved user interface for interpreting and visualizing data
CN109086570B (zh) * 2018-06-29 2020-09-04 迈凯基因科技有限公司 一种多数据库依次交互方法及装置
US20210158896A1 (en) * 2018-07-03 2021-05-27 Nec Corporation Information processing system, mutation detection system, storage medium, and information processing method
CN111383713B (zh) * 2018-12-29 2023-08-01 北京安诺优达医学检验实验室有限公司 ctDNA检测分析装置及方法
US11636951B2 (en) 2019-10-02 2023-04-25 Kpn Innovations, Llc. Systems and methods for generating a genotypic causal model of a disease state
JP7352904B2 (ja) * 2019-10-08 2023-09-29 国立大学法人 東京大学 分析装置、分析方法及びプログラム
CN111341456B (zh) * 2020-02-21 2024-02-23 中南大学湘雅医院 糖尿病足知识图谱生成方法、装置及可读存储介质
IL297442A (en) 2020-04-22 2022-12-01 Iovance Biotherapeutics Inc Systems and methods for coordinating production of cells for patient-specific immunotherapy
CN111666382A (zh) * 2020-06-19 2020-09-15 中信银行股份有限公司 用户特征提取方法、装置、电子设备及可读存储介质
US11361194B2 (en) 2020-10-27 2022-06-14 Illumina, Inc. Systems and methods for per-cluster intensity correction and base calling
CN113011843B (zh) * 2021-03-17 2024-06-07 上海谱趣信息科技有限公司 一种代谢组学实验自动化操作系统以及工作方法
ES2930699A1 (es) * 2021-06-10 2022-12-20 Veritas Intercontinental S L Metodo de analisis genomico en una plataforma bioinformatica
US11538555B1 (en) 2021-10-06 2022-12-27 Illumina, Inc. Protein structure-based protein language models
CN113836931B (zh) * 2021-11-24 2022-03-08 慧算医疗科技(上海)有限公司 基于领域本体的癌症用药知识库构建方法、系统及终端
JP2023102987A (ja) * 2022-01-13 2023-07-26 国立大学法人 東京大学 情報処理装置、情報処理方法、及びプログラム
CN116343913B (zh) * 2023-03-15 2023-11-14 昆明市延安医院 基于表型语义关联基因聚类调控网络预测单基因遗传病潜在致病机制的分析方法

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030190649A1 (en) * 2002-03-25 2003-10-09 Jan Aerts Data mining of SNP databases for the selection of intragenic SNPs

Family Cites Families (58)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6287850B1 (en) 1995-06-07 2001-09-11 Affymetrix, Inc. Bioarray chip reaction apparatus and its manufacture
US6969488B2 (en) 1998-05-22 2005-11-29 Solexa, Inc. System and apparatus for sequential processing of analytes
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
US20030022207A1 (en) 1998-10-16 2003-01-30 Solexa, Ltd. Arrayed polynucleotides and their use in genome analysis
US7056661B2 (en) 1999-05-19 2006-06-06 Cornell Research Foundation, Inc. Method for sequencing nucleic acid molecules
US7211390B2 (en) 1999-09-16 2007-05-01 454 Life Sciences Corporation Method of sequencing a nucleic acid
US7244559B2 (en) 1999-09-16 2007-07-17 454 Life Sciences Corporation Method of sequencing a nucleic acid
WO2001023610A2 (fr) 1999-09-29 2001-04-05 Solexa Ltd. Sequençage de polynucleotides
WO2001027857A2 (fr) * 1999-10-13 2001-04-19 Sequenom, Inc. Methodes de generation de bases de donnees et bases de donnees pour l'identification de marqueurs genetiques polymorphes
GB0002389D0 (en) 2000-02-02 2000-03-22 Solexa Ltd Molecular arrays
US20030171876A1 (en) * 2002-03-05 2003-09-11 Victor Markowitz System and method for managing gene expression data
US7577683B2 (en) 2000-06-08 2009-08-18 Ingenuity Systems, Inc. Methods for the construction and maintenance of a knowledge representation system
US6741986B2 (en) 2000-12-08 2004-05-25 Ingenuity Systems, Inc. Method and system for performing information extraction and quality control for a knowledgebase
US6772160B2 (en) 2000-06-08 2004-08-03 Ingenuity Systems, Inc. Techniques for facilitating information acquisition and storage
AU2001293163A1 (en) 2000-09-27 2002-04-08 Lynx Therapeutics, Inc. Method for determining relative abundance of nucleic acid sequences
AU785425B2 (en) * 2001-03-30 2007-05-17 Genetic Technologies Limited Methods of genomic analysis
DE10120797B4 (de) 2001-04-27 2005-12-22 Genovoxx Gmbh Verfahren zur Analyse von Nukleinsäureketten
DE10239504A1 (de) 2001-08-29 2003-04-24 Genovoxx Gmbh Verfahren zur Analyse von Nukleinsäurekettensequenzen und der Genexpression
JP2003101204A (ja) 2001-09-25 2003-04-04 Nec Kansai Ltd 配線基板及び配線基板の製造方法並びに電子部品
AU2002350485A1 (en) 2001-10-04 2003-04-22 Genovoxx Gmbh Device for sequencing nucleic acid molecules
DE10149786B4 (de) 2001-10-09 2013-04-25 Dmitry Cherkasov Oberfläche für Untersuchungen aus Populationen von Einzelmolekülen
US20050124022A1 (en) 2001-10-30 2005-06-09 Maithreyan Srinivasan Novel sulfurylase-luciferase fusion proteins and thermostable sulfurylase
US6902921B2 (en) 2001-10-30 2005-06-07 454 Corporation Sulfurylase-luciferase fusion proteins and thermostable sulfurylase
US8489334B2 (en) 2002-02-04 2013-07-16 Ingenuity Systems, Inc. Drug discovery methods
US8793073B2 (en) 2002-02-04 2014-07-29 Ingenuity Systems, Inc. Drug discovery methods
US7135286B2 (en) * 2002-03-26 2006-11-14 Perlegen Sciences, Inc. Pharmaceutical and diagnostic business systems and methods
DE10214395A1 (de) 2002-03-30 2003-10-23 Dmitri Tcherkassov Verfahren zur Analyse von Einzelnukleotidpolymorphismen
US20040093331A1 (en) * 2002-09-20 2004-05-13 Board Of Regents, University Of Texas System Computer program products, systems and methods for information discovery and relational analyses
US7865534B2 (en) * 2002-09-30 2011-01-04 Genstruct, Inc. System, method and apparatus for assembling and mining life science data
EP1552472A4 (fr) * 2002-10-15 2008-02-20 Univ California Procedes et systemes permettant d'identifier des voies reactionnelles fonctionnelles
WO2005003375A2 (fr) 2003-01-29 2005-01-13 454 Corporation Procede d'amplification et de sequençage d'acides nucleiques
US20070168135A1 (en) * 2003-06-25 2007-07-19 Pankaj Agarwal Biological data set comparison method
US20050086035A1 (en) * 2003-09-02 2005-04-21 Pioneer Hi-Bred International, Inc. Computer systems and methods for genotype to phenotype mapping using molecular network models
DE10356837A1 (de) 2003-12-05 2005-06-30 Dmitry Cherkasov Modifizierte Nukleotide und Nukleoside
US8637650B2 (en) 2003-11-05 2014-01-28 Genovoxx Gmbh Macromolecular nucleotide compounds and methods for using the same
US7169560B2 (en) 2003-11-12 2007-01-30 Helicos Biosciences Corporation Short cycle methods for sequencing polynucleotides
DE102004009704A1 (de) 2004-02-27 2005-09-15 Dmitry Cherkasov Makromolekulare Nukleotidverbindungen und Methoden zu deren Anwendung
DE102004025745A1 (de) 2004-05-26 2005-12-15 Cherkasov, Dmitry Oberfläche für die Analysen an einzelnen Molekülen
DE102004025696A1 (de) 2004-05-26 2006-02-23 Dmitry Cherkasov Verfahren, Oberfläche und Substrate zu hochparallelen Analysen von Nukleinsäureketten
DE102004025694A1 (de) 2004-05-26 2006-02-23 Dmitry Cherkasov Verfahren und Oberfläche zu hochparallelen Analysen von Nukleinsäureketten
DE102004025746A1 (de) 2004-05-26 2005-12-15 Dmitry Cherkasov Verfahren, Oberfläche und Substrate zur hochparallelen Sequenzierung von Nukleinsäureketten
DE102004025744A1 (de) 2004-05-26 2005-12-29 Dmitry Cherkasov Oberfläche für die Analysen an einzelnen Nukleinsäuremolekülen
DE102004025695A1 (de) 2004-05-26 2006-02-23 Dmitry Cherkasov Verfahren und Oberfläche zur parallelen Sequenzierung von Nukleinsäureketten
JP2004348749A (ja) * 2004-05-31 2004-12-09 Toshiba Corp 診療情報システム、診療情報提供システム、診療情報提供方法、診療情報システム、遺伝子解析システム
US20060002471A1 (en) 2004-06-30 2006-01-05 Lippincott Louis A Motion estimation unit
US20060012793A1 (en) 2004-07-19 2006-01-19 Helicos Biosciences Corporation Apparatus and methods for analyzing samples
US7276720B2 (en) 2004-07-19 2007-10-02 Helicos Biosciences Corporation Apparatus and methods for analyzing samples
US20060024678A1 (en) 2004-07-28 2006-02-02 Helicos Biosciences Corporation Use of single-stranded nucleic acid binding proteins in sequencing
US7493333B2 (en) * 2004-09-03 2009-02-17 Biowisdom Limited System and method for parsing and/or exporting data from one or more multi-relational ontologies
US7505989B2 (en) * 2004-09-03 2009-03-17 Biowisdom Limited System and method for creating customized ontologies
WO2006054690A1 (fr) * 2004-11-19 2006-05-26 Shimadzu Corporation Procédé de détection de polymorphisme de gène, procédé de diagnostic, appareil idoine et kit réactif d’essai
JP2007052766A (ja) * 2005-07-22 2007-03-01 Mathematical Systems Inc パスウェイ表示方法、情報処理装置及びパスウェイ表示プログラム
CA2658991A1 (fr) 2006-07-28 2008-01-31 Ingenuity Systems, Inc. Publicite ciblee basee sur la genomique
CN101617227B (zh) * 2006-11-30 2013-12-11 纳维哲尼克斯公司 遗传分析系统和方法
EP2196927A4 (fr) * 2007-10-02 2014-08-06 Fujitsu Ltd Programme de support d'analyse, dispositif de support d'analyse et procédé de support d'analyse
WO2009085473A2 (fr) * 2007-11-21 2009-07-09 Cosmosid Inc. Système d'identification de génome
JP5413952B2 (ja) * 2009-03-23 2014-02-12 公益財団法人がん研究会 網羅的ゲノムワイドsnp情報に基づくエピスタシス効果の探索アルゴリズム
WO2011050341A1 (fr) * 2009-10-22 2011-04-28 National Center For Genome Resources Méthodes et systèmes pour l'analyse de séquençage médical

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030190649A1 (en) * 2002-03-25 2003-10-09 Jan Aerts Data mining of SNP databases for the selection of intragenic SNPs

Also Published As

Publication number Publication date
JP6773631B2 (ja) 2020-10-21
EP3836149A1 (fr) 2021-06-16
CA2854832C (fr) 2023-05-23
CN111710361A (zh) 2020-09-25
EP2776962A1 (fr) 2014-09-17
AU2012335955A1 (en) 2014-07-03
AU2018203062A1 (en) 2018-05-17
WO2013070634A1 (fr) 2013-05-16
JP2015501974A (ja) 2015-01-19
AU2020202267A2 (en) 2020-09-03
JP2018081698A (ja) 2018-05-24
CA2854832A1 (fr) 2013-05-16
AU2020202267B2 (en) 2021-07-15
CN104094266A (zh) 2014-10-08
AU2020202267A1 (en) 2020-04-23

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