CA2671267A1 - Genetic analysis systems and methods - Google Patents

Genetic analysis systems and methods Download PDF

Info

Publication number
CA2671267A1
CA2671267A1 CA002671267A CA2671267A CA2671267A1 CA 2671267 A1 CA2671267 A1 CA 2671267A1 CA 002671267 A CA002671267 A CA 002671267A CA 2671267 A CA2671267 A CA 2671267A CA 2671267 A1 CA2671267 A1 CA 2671267A1
Authority
CA
Canada
Prior art keywords
individual
phenotype
genotype
risk
profile
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.)
Abandoned
Application number
CA002671267A
Other languages
English (en)
French (fr)
Inventor
Dietrich A. Stephan
Melissa Floren Filippone
Jennifer Wessel
Michele Cargill
Eran Halperin
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.)
Navigenics Inc
Original Assignee
Navigenics Inc.
Dietrich A. Stephan
Melissa Floren Filippone
Jennifer Wessel
Michele Cargill
Eran Halperin
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
Priority claimed from US11/781,679 external-priority patent/US20080131887A1/en
Application filed by Navigenics Inc., Dietrich A. Stephan, Melissa Floren Filippone, Jennifer Wessel, Michele Cargill, Eran Halperin filed Critical Navigenics Inc.
Publication of CA2671267A1 publication Critical patent/CA2671267A1/en
Abandoned 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
    • 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
    • G16B50/00ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/30Data warehousing; Computing architectures
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6834Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • 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
    • G16B20/40Population genetics; Linkage disequilibrium
    • 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
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes
    • YGENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02ATECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioethics (AREA)
  • Databases & Information Systems (AREA)
  • Ecology (AREA)
  • Physiology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Biomedical Technology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
CA002671267A 2006-11-30 2007-11-30 Genetic analysis systems and methods Abandoned CA2671267A1 (en)

Applications Claiming Priority (13)

Application Number Priority Date Filing Date Title
US86806606P 2006-11-30 2006-11-30
US60/868,066 2006-11-30
US95112307P 2007-07-20 2007-07-20
US60/951,123 2007-07-20
US11/781,679 2007-07-23
US11/781,679 US20080131887A1 (en) 2006-11-30 2007-07-23 Genetic Analysis Systems and Methods
US97219807P 2007-09-13 2007-09-13
US60/972,198 2007-09-13
US98562207P 2007-11-05 2007-11-05
US60/985,622 2007-11-05
US98968507P 2007-11-21 2007-11-21
US60/989,685 2007-11-21
PCT/US2007/086138 WO2008067551A2 (en) 2006-11-30 2007-11-30 Genetic analysis systems and methods

Publications (1)

Publication Number Publication Date
CA2671267A1 true CA2671267A1 (en) 2008-06-05

Family

ID=38962435

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002671267A Abandoned CA2671267A1 (en) 2006-11-30 2007-11-30 Genetic analysis systems and methods

Country Status (10)

Country Link
EP (1) EP2102651A4 (de)
JP (2) JP2010522537A (de)
KR (1) KR20090105921A (de)
CN (1) CN103642902B (de)
AU (1) AU2007325021B2 (de)
CA (1) CA2671267A1 (de)
GB (1) GB2444410B (de)
HK (1) HK1139737A1 (de)
TW (1) TWI363309B (de)
WO (1) WO2008067551A2 (de)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9092391B2 (en) 2006-11-30 2015-07-28 Navigenics, Inc. Genetic analysis systems and methods

Families Citing this family (93)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8340950B2 (en) 2006-02-10 2012-12-25 Affymetrix, Inc. Direct to consumer genotype-based products and services
US7972787B2 (en) 2007-02-16 2011-07-05 Massachusetts Eye And Ear Infirmary Methods for detecting age-related macular degeneration
US20080228700A1 (en) 2007-03-16 2008-09-18 Expanse Networks, Inc. Attribute Combination Discovery
FR2934698B1 (fr) * 2008-08-01 2011-11-18 Commissariat Energie Atomique Procede de prediction pour le pronostic ou le diagnostic ou la reponse therapeutique d'une maladie et notamment du cancer de la prostate et dispositif permettant la mise en oeuvre du procede.
AU2009279434A1 (en) * 2008-08-08 2010-02-11 Navigenics, Inc. Methods and systems for personalized action plans
KR20110074527A (ko) * 2008-09-12 2011-06-30 네이비제닉스 인크. 복수의 환경 및 유전 위험 인자를 통합하기 위한 방법 및 시스템
NZ572036A (en) 2008-10-15 2010-03-26 Nikola Kirilov Kasabov Data analysis and predictive systems and related methodologies
WO2010067381A1 (en) * 2008-12-12 2010-06-17 Decode Genetics Ehf Genetic variants as markers for use in diagnosis, prognosis and treatment of eosinophilia, asthma, and myocardial infarction
US8108406B2 (en) 2008-12-30 2012-01-31 Expanse Networks, Inc. Pangenetic web user behavior prediction system
US8463554B2 (en) 2008-12-31 2013-06-11 23Andme, Inc. Finding relatives in a database
CA2760439A1 (en) 2009-04-30 2010-11-04 Good Start Genetics, Inc. Methods and compositions for evaluating genetic markers
EP2438193B1 (de) * 2009-06-01 2015-07-22 Genetic Technologies Limited Verfahren zur brustkrebsrisikobewertung
DE102010013114B4 (de) * 2010-03-26 2012-02-16 Rüdiger Lawaczeck Prädiagnostisches Sicherheitssystem
KR20110136638A (ko) * 2010-06-15 2011-12-21 재단법인 게놈연구재단 게놈정보를 이용하여 온라인 상의 사회적 네트워크를 형성하는 시스템 및 그 형성방법
WO2012006669A1 (en) * 2010-07-13 2012-01-19 Fitgenes Pty Ltd System and method for determining personal health intervention
WO2012030967A1 (en) * 2010-08-31 2012-03-08 Knome, Inc. Personal genome indexer
WO2012054653A2 (en) 2010-10-19 2012-04-26 Medtronic, Inc. Diagnostic kits, genetic markers, and methods for scd or sca therapy selection
WO2012059839A2 (en) * 2010-11-01 2012-05-10 Koninklijke Philips Electronics N.V. In vitro diagnostic testing including automated brokering of royalty payments for proprietary tests
US9163281B2 (en) 2010-12-23 2015-10-20 Good Start Genetics, Inc. Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction
US8718950B2 (en) 2011-07-08 2014-05-06 The Medical College Of Wisconsin, Inc. Methods and apparatus for identification of disease associated mutations
US20140310215A1 (en) * 2011-09-26 2014-10-16 John Trakadis Method and system for genetic trait search based on the phenotype and the genome of a human subject
US10378060B2 (en) 2011-10-14 2019-08-13 Dana-Farber Cancer Institute, Inc. ZNF365/ZFP365 biomarker predictive of anti-cancer response
KR101295785B1 (ko) * 2011-10-31 2013-08-12 삼성에스디에스 주식회사 유전변이 데이터 베이스 구축 장치 및 방법
US10437858B2 (en) 2011-11-23 2019-10-08 23Andme, Inc. Database and data processing system for use with a network-based personal genetics services platform
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
KR20140009854A (ko) * 2012-07-13 2014-01-23 삼성전자주식회사 치료제 선정을 위한 유전 정보의 분석 방법 및 장치
KR101967248B1 (ko) * 2012-08-16 2019-04-10 삼성전자주식회사 개인의 유전 정보를 분석하는 방법 및 장치
JP5844715B2 (ja) 2012-11-07 2016-01-20 学校法人沖縄科学技術大学院大学学園 データ通信システム、データ解析装置、データ通信方法、および、プログラム
KR101533395B1 (ko) * 2013-01-21 2015-07-08 이상열 단일 염기 다형성을 이용한 개체간의 유사도 산출 방법 및 시스템
WO2014119914A1 (ko) * 2013-02-01 2014-08-07 에스케이텔레콤 주식회사 유전자 서열 기반 개인 마커에 관한 정보를 제공하는 방법 및 이를 이용한 장치
EP2971159B1 (de) 2013-03-14 2019-05-08 Molecular Loop Biosolutions, LLC Verfahren zur analyse von nukleinsäuren
US20140274763A1 (en) * 2013-03-15 2014-09-18 Pathway Genomics Corporation Method and system to predict response to pain treatments
US9192647B2 (en) 2013-10-04 2015-11-24 Hans-Michael Dosch Method for reversing recent-onset type 1 diabetes (T1D) by administering substance P (sP)
TW201516725A (zh) * 2013-10-18 2015-05-01 Tci Gene Inc 單一核苷酸多型性疾病發生率預測系統
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
FI20136079A (fi) * 2013-11-04 2015-05-05 Medisapiens Oy Menetelmä ja järjestelmä geeniperimän terveyden arvioimiseksi
DE202014010499U1 (de) 2013-12-17 2015-10-20 Kymab Limited Targeting von humaner PCSK9 zur Cholesterinbehandlung
KR101400946B1 (ko) 2013-12-27 2014-05-29 한국과학기술정보연구원 생물학적 네트워크 분석 장치 및 방법
KR102131973B1 (ko) * 2013-12-30 2020-07-08 주식회사 케이티 개인 건강관리 방법 및 시스템
CN106460062A (zh) 2014-05-05 2017-02-22 美敦力公司 用于scd、crt、crt‑d或sca治疗识别和/或选择的方法和组合物
WO2015175530A1 (en) 2014-05-12 2015-11-19 Gore Athurva Methods for detecting aneuploidy
EP4328245A3 (de) 2014-07-15 2024-06-05 Kymab Ltd. Antikörper zur verwendung bei der behandlung von erkrankungen im zusammenhang mit spezifischen pcsk9-varianten in bestimmten patientenpopulationen
DE202015009007U1 (de) 2014-07-15 2016-08-19 Kymab Limited Targeting von humaner PCSK9 zur Cholesterinbehandlung
EP2975059A1 (de) 2014-07-15 2016-01-20 Kymab Limited Antikörper zur anwendung zur behandlung von spezifischen pcsk9 varianten bezogenen erkrankungen in spezifischen patientengruppen
WO2016023916A1 (en) 2014-08-12 2016-02-18 Kymab Limited Treatment of disease using ligand binding to targets of interest
ES2898435T3 (es) * 2014-09-03 2022-03-07 Otsuka Pharma Co Ltd Dispositivo de ayuda para la determinación de patología, método, programa y medio de almacenamiento
US11408024B2 (en) 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences
JP2017536087A (ja) 2014-09-24 2017-12-07 グッド スタート ジェネティクス, インコーポレイテッド 遺伝子アッセイのロバストネスを増大させるためのプロセス制御
WO2016071701A1 (en) 2014-11-07 2016-05-12 Kymab Limited Treatment of disease using ligand binding to targets of interest
EP4095261A1 (de) 2015-01-06 2022-11-30 Molecular Loop Biosciences, Inc. Abtasten auf strukturelle varianten
CN107548498A (zh) 2015-01-20 2018-01-05 南托米克斯有限责任公司 用于反应预测高级别膀胱癌中的化疗的系统和方法
CA2975529A1 (en) * 2015-02-09 2016-08-18 10X Genomics, Inc. Systems and methods for determining structural variation and phasing using variant call data
CA2978708A1 (en) * 2015-03-03 2016-09-09 Nantomics, Llc Ensemble-based research recommendation systems and methods
KR102508971B1 (ko) * 2015-07-22 2023-03-09 주식회사 케이티 질병 위험도 예측 방법 및 이를 수행하는 장치
CA3035342A1 (en) * 2015-09-16 2017-03-23 Good Start Genetics, Inc. Systems and methods for medical genetic testing
AU2016324166A1 (en) * 2015-09-18 2018-05-10 Omicia, Inc. Predicting disease burden from genome variants
KR101795662B1 (ko) * 2015-11-19 2017-11-13 연세대학교 산학협력단 대사 이상 질환 진단 장치 및 그 방법
FR3045874B1 (fr) * 2015-12-18 2019-06-14 Axlr, Satt Du Languedoc Roussillon Architecture pour l'analyse de donnees genomiques
JP6776576B2 (ja) * 2016-03-28 2020-10-28 富士通株式会社 データベース処理プログラム、データベース処理装置及びデータベース処理方法
KR101991007B1 (ko) * 2016-05-27 2019-06-20 (주)메디젠휴먼케어 Snp를 이용한 질병 관련 유전체 분석 시스템 및 장치
EP3479272A1 (de) * 2016-06-29 2019-05-08 Koninklijke Philips N.V. Krankheitsausgerichtete genomische anonymisierung
KR101815529B1 (ko) 2016-07-29 2018-01-30 (주)신테카바이오 휴먼 하플로타이핑 시스템 및 방법
WO2018042185A1 (en) * 2016-09-02 2018-03-08 Imperial Innovations Ltd Methods, systems and apparatus for identifying pathogenic gene variants
CN106778083A (zh) * 2016-11-28 2017-05-31 墨宝股份有限公司 一种自动生成基因检测报告的方法及装置
EP3553737A4 (de) * 2016-12-12 2019-11-06 Nec Corporation Informationsverarbeitungsvorrichtung, verfahren zur erzeugung genetischer informationen und programm
CN108884488A (zh) * 2017-03-15 2018-11-23 东洋纺株式会社 基因检测方法及基因检测试剂盒
CN108629153A (zh) * 2017-03-23 2018-10-09 广州康昕瑞基因健康科技有限公司 医学基因分析方法和系统
WO2019028507A1 (en) * 2017-08-08 2019-02-14 Queensland University Of Technology METHODS OF DIAGNOSING PRECOCUS STAGES OF CARDIAC INSUFFICIENCY
KR102073590B1 (ko) * 2017-08-17 2020-02-06 (주)에이엔티홀딩스 유전자 정보에 기초하여 서비스를 제공하기 위한 방법, 시스템 및 비일시성의 컴퓨터 판독 가능 기록 매체
KR102097540B1 (ko) * 2017-12-26 2020-04-07 주식회사 클리노믹스 질병 및 표현형 위험도 예측 장치 및 방법
CN108549795A (zh) * 2018-03-13 2018-09-18 刘吟 基于家系图框架的遗传咨询信息系统
GB201810897D0 (en) * 2018-07-03 2018-08-15 Chronomics Ltd Phenotype prediction
CN109355368A (zh) * 2018-10-22 2019-02-19 江苏美因康生物科技有限公司 一种快速检测高血压个体化用药基因多态性的试剂盒及方法
US10896742B2 (en) 2018-10-31 2021-01-19 Ancestry.Com Dna, Llc Estimation of phenotypes using DNA, pedigree, and historical data
GB2578727A (en) * 2018-11-05 2020-05-27 Earlham Inst Genomic analysis
WO2020132456A1 (en) * 2018-12-20 2020-06-25 The Johns Hopkins University Treating type 1 diabetes, other autoimmune diseases
JP7137520B2 (ja) * 2019-04-23 2022-09-14 ジェネシスヘルスケア株式会社 膵炎のリスクを判定する方法
JP7137526B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 アトピー性皮膚炎のリスクを判定する方法
JP7137524B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 変形性膝関節症のリスクを判定する方法
JP7137521B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 乾癬のリスクを判定する方法
JP7137525B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 接触性皮膚炎のリスクを判定する方法
JP7137522B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 脊椎側弯症のリスクを判定する方法
JP7137523B2 (ja) * 2019-04-24 2022-09-14 ジェネシスヘルスケア株式会社 じんましんのリスクを判定する方法
KR102357453B1 (ko) * 2019-06-24 2022-02-04 (주) 아이크로진 유전 정보를 이용한 시각화 방법 및 시각화 서비스 플랫폼
KR102091790B1 (ko) * 2019-09-02 2020-03-20 주식회사 클리노믹스 피검사자와 생물체 간의 유전자 정보를 이용한 유전적 띠 제공 시스템 및 그 방법
KR102151716B1 (ko) * 2019-12-06 2020-09-04 주식회사 클리노믹스 게놈 정보를 이용한 유전적 성씨 정보 제공 시스템 및 방법
KR102179850B1 (ko) * 2019-12-06 2020-11-17 주식회사 클리노믹스 구강 내 미생물 분석장치를 이용한 건강 예측 시스템 및 방법
KR102136207B1 (ko) * 2019-12-31 2020-07-21 주식회사 클리노믹스 유전자 정보 개인 맞춤형 소셜 컨텐츠 정보 제공 시스템 및 그 방법
KR102138165B1 (ko) * 2020-01-02 2020-07-27 주식회사 클리노믹스 국가, 민족, 및 인종별 표준게놈지도를 이용한 정체성 분석 서비스 제공 방법
KR102223362B1 (ko) * 2020-08-10 2021-03-05 주식회사 쓰리빌리언 증상 연관 유전변이를 이용한 질병 유발 유전변이 발굴 시스템 및 방법
KR102223361B1 (ko) * 2020-09-23 2021-03-05 주식회사 쓰리빌리언 유전자 네트워크를 활용한 유전질병 진단 시스템
CN113921143B (zh) * 2021-10-08 2024-04-16 天津金域医学检验实验室有限公司 一种共分离分析中Bayes因子的个性化估算方法及系统
CN114360732B (zh) * 2022-01-12 2024-04-09 平安科技(深圳)有限公司 医疗数据分析方法、装置、电子设备及存储介质

Family Cites Families (20)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2000067139A (ja) * 1998-08-25 2000-03-03 Hitachi Ltd 電子カルテシステム
EP2899660A1 (de) * 1999-08-27 2015-07-29 Iris Biotechnologies Inc. System mit künstlicher Intelligenz zur genetischen Analyse
WO2001026029A2 (en) * 1999-10-01 2001-04-12 Orchid Biosciences, Inc. Method and system for providing genotype clinical information over a computer network
US20020133495A1 (en) * 2000-03-16 2002-09-19 Rienhoff Hugh Y. Database system and method
JP2002107366A (ja) * 2000-10-02 2002-04-10 Hitachi Ltd 診断支援システム
AU2001297684A1 (en) * 2000-12-04 2002-08-19 Genaissance Pharmaceuticals, Inc. System and method for the management of genomic data
US20020128860A1 (en) * 2001-01-04 2002-09-12 Leveque Joseph A. Collecting and managing clinical information
US20020187483A1 (en) * 2001-04-20 2002-12-12 Cerner Corporation Computer system for providing information about the risk of an atypical clinical event based upon genetic information
US7461006B2 (en) * 2001-08-29 2008-12-02 Victor Gogolak Method and system for the analysis and association of patient-specific and population-based genomic data with drug safety adverse event data
US20030104453A1 (en) * 2001-11-06 2003-06-05 David Pickar System for pharmacogenetics of adverse drug events
US20040053263A1 (en) * 2002-08-30 2004-03-18 Abreu Maria T. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
WO2004109551A1 (ja) * 2003-06-05 2004-12-16 Hitachi High-Technologies Corporation 塩基配列関連情報を用いた情報提供システム及びプログラム
GB0313964D0 (en) * 2003-06-16 2003-07-23 Mars Inc Genotype test
US7084264B2 (en) * 2003-07-16 2006-08-01 Chau-Ting Yeh Viral sequences
US8222005B2 (en) * 2003-09-17 2012-07-17 Agency For Science, Technology And Research Method for gene identification signature (GIS) analysis
KR20060130039A (ko) * 2003-10-15 2006-12-18 가부시끼가이샤 사인포스트 질환 위험도 판정용 유전자 다형의 결정 방법, 질환 위험도판정 방법 및 판정용 어레이
US20050214811A1 (en) * 2003-12-12 2005-09-29 Margulies David M Processing and managing genetic information
US7127355B2 (en) * 2004-03-05 2006-10-24 Perlegen Sciences, Inc. Methods for genetic analysis
JP2008506372A (ja) * 2004-07-16 2008-03-06 バイエル・ヘルスケア・アクチェンゲゼルシャフト 薬物有害反応(adr)および薬効を診断するための予測ツールとしての一塩基多型
WO2006053955A2 (en) * 2004-11-19 2006-05-26 Oy Jurilab Ltd Method and kit for detecting a risk of essential arterial hypertension

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9092391B2 (en) 2006-11-30 2015-07-28 Navigenics, Inc. Genetic analysis systems and methods

Also Published As

Publication number Publication date
TWI363309B (en) 2012-05-01
CN103642902B (zh) 2016-01-20
HK1139737A1 (en) 2010-09-24
JP2010522537A (ja) 2010-07-08
AU2007325021B2 (en) 2013-05-09
GB2444410A (en) 2008-06-04
EP2102651A4 (de) 2010-11-17
JP2014140387A (ja) 2014-08-07
EP2102651A2 (de) 2009-09-23
WO2008067551A2 (en) 2008-06-05
GB2444410B (en) 2011-08-24
WO2008067551A3 (en) 2008-12-11
AU2007325021A1 (en) 2008-06-05
KR20090105921A (ko) 2009-10-07
TW200847056A (en) 2008-12-01
GB0723512D0 (en) 2008-01-09
CN103642902A (zh) 2014-03-19

Similar Documents

Publication Publication Date Title
US9092391B2 (en) Genetic analysis systems and methods
AU2007325021B2 (en) Genetic analysis systems and methods
AU2008304205B2 (en) Methods and systems for genomic analysis using ancestral data
CN101617227B (zh) 遗传分析系统和方法
Porubsky et al. Dense and accurate whole-chromosome haplotyping of individual genomes
Abramov et al. Landscape of allele-specific transcription factor binding in the human genome
KR102384620B1 (ko) 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
TWI423151B (zh) 結合多個環境及基因風險因子的方法及系統
US20100042438A1 (en) Methods and Systems for Personalized Action Plans
Scharpf et al. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays
Salmaninejad et al. Next-generation sequencing and its application in diagnosis of retinitis pigmentosa
Kerr et al. An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Romdhane et al. A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
Mansur et al. Analyzing the effects of genetic variation in noncoding genomic regions
Ju et al. Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information
Suarez-Pajes et al. Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans
Cai et al. Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population
Chan et al. Applied human genetic epidemiology

Legal Events

Date Code Title Description
EEER Examination request
FZDE Discontinued

Effective date: 20161212