BRPI0912610A2 - métodos e sistemas para triagem universal de portador - Google Patents

métodos e sistemas para triagem universal de portador

Info

Publication number
BRPI0912610A2
BRPI0912610A2 BRPI0912610A BRPI0912610A BRPI0912610A2 BR PI0912610 A2 BRPI0912610 A2 BR PI0912610A2 BR PI0912610 A BRPI0912610 A BR PI0912610A BR PI0912610 A BRPI0912610 A BR PI0912610A BR PI0912610 A2 BRPI0912610 A2 BR PI0912610A2
Authority
BR
Brazil
Prior art keywords
systems
methods
universal carrier
carrier screening
screening
Prior art date
Application number
BRPI0912610A
Other languages
English (en)
Inventor
Balaji K Srinivasan
Balaji S Srinivasan
Eric Evans
Kumaranayagam Balakrishnan
Ramji Srinivasan
Original Assignee
Counsyl 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 Counsyl Inc filed Critical Counsyl Inc
Publication of BRPI0912610A2 publication Critical patent/BRPI0912610A2/pt

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
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06Q—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES; SYSTEMS OR METHODS SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES, NOT OTHERWISE PROVIDED FOR
    • G06Q30/00—Commerce
    • G06Q30/06—Buying, selling or leasing transactions
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06Q—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES; SYSTEMS OR METHODS SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES, NOT OTHERWISE PROVIDED FOR
    • G06Q30/00—Commerce
    • G06Q30/06—Buying, selling or leasing transactions
    • G06Q30/0601—Electronic shopping [e-shopping]
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06Q—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES; SYSTEMS OR METHODS SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL OR SUPERVISORY PURPOSES, NOT OTHERWISE PROVIDED FOR
    • G06Q99/00—Subject matter not provided for in other groups of this subclass
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/40—Population genetics; Linkage disequilibrium
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/124—Animal traits, i.e. production traits, including athletic performance or the like
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • 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
    • G16B10/00—ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Theoretical Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Business, Economics & Management (AREA)
  • Molecular Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Organic Chemistry (AREA)
  • Finance (AREA)
  • Accounting & Taxation (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Business, Economics & Management (AREA)
  • General Physics & Mathematics (AREA)
  • Development Economics (AREA)
  • Economics (AREA)
  • Marketing (AREA)
  • Strategic Management (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Artificial Intelligence (AREA)
  • Epidemiology (AREA)
  • Ecology (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
BRPI0912610A 2008-05-16 2009-05-18 métodos e sistemas para triagem universal de portador BRPI0912610A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US5392608P 2008-05-16 2008-05-16
PCT/US2009/003104 WO2009139929A2 (en) 2008-05-16 2009-05-18 Methods and systems for universal carrier screening

Publications (1)

Publication Number Publication Date
BRPI0912610A2 true BRPI0912610A2 (pt) 2016-01-26

Family

ID=41319225

Family Applications (1)

Application Number Title Priority Date Filing Date
BRPI0912610A BRPI0912610A2 (pt) 2008-05-16 2009-05-18 métodos e sistemas para triagem universal de portador

Country Status (11)

Country Link
US (3) US20100022406A1 (pt)
EP (1) EP2288724B8 (pt)
CN (1) CN102027137A (pt)
AU (1) AU2009246875A1 (pt)
BR (1) BRPI0912610A2 (pt)
CA (1) CA2723296A1 (pt)
ES (1) ES2528028T3 (pt)
GB (1) GB2462952A (pt)
IL (1) IL209108A0 (pt)
TW (1) TWI460602B (pt)
WO (1) WO2009139929A2 (pt)

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WO2010065139A1 (en) * 2008-12-05 2010-06-10 23Andme, Inc. Gamete donor selection based on genetic calculations
EP2491170A4 (en) 2009-10-20 2014-10-22 Genepeeks Inc METHODS AND SYSTEMS FOR PRE-CONCEPTUAL PREDICTION PREDICTION ATTRIBUTES
US8889037B2 (en) * 2011-02-01 2014-11-18 Kellogg Brown & Root Llc Systems and methods for producing syngas and products therefrom
CN102888446A (zh) * 2011-07-20 2013-01-23 复旦大学附属妇产科医院 检测斑点状软骨异形综合征i型的基因芯片
US10790041B2 (en) * 2011-08-17 2020-09-29 23Andme, Inc. Method for analyzing and displaying genetic information between family members
US8856082B2 (en) * 2012-05-23 2014-10-07 International Business Machines Corporation Policy based population of genealogical archive data
EP2875173B1 (en) 2012-07-17 2017-06-28 Counsyl, Inc. System and methods for detecting genetic variation
US9092401B2 (en) 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
EP2951741A2 (en) * 2013-02-03 2015-12-09 Genelex Corporation Systems and methods for quantification and presentation of medical risk arising from unknown factors
JP2016513461A (ja) * 2013-03-12 2016-05-16 カウンシル，インコーポレーテッド 出生前遺伝子分析システム及び方法
US10114851B2 (en) 2014-01-24 2018-10-30 Sachet Ashok Shukla Systems and methods for verifiable, private, and secure omic analysis
CN115206436A (zh) 2015-04-24 2022-10-18 犹他大学研究基金会 用于多重分类学分类的方法和系统
US11708574B2 (en) 2016-06-10 2023-07-25 Myriad Women's Health, Inc. Nucleic acid sequencing adapters and uses thereof
WO2018064486A1 (en) 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
JP7429338B2 (ja) 2017-01-10 2024-02-08 ジュノー セラピューティクス インコーポレイテッド 細胞療法および関連方法のエピジェネティック解析
WO2018144217A1 (en) 2017-01-31 2018-08-09 Counsyl, Inc. Methods and compositions for enrichment of target polynucleotides
US10968447B2 (en) 2017-01-31 2021-04-06 Myriad Women's Health, Inc. Methods and compositions for enrichment of target polynucleotides
US20180239866A1 (en) * 2017-02-21 2018-08-23 International Business Machines Corporation Prediction of genetic trait expression using data analytics
CN110019990B (zh) * 2017-07-14 2023-05-23 阿里巴巴集团控股有限公司 样本筛选的方法和装置、业务对象数据搜索的方法和装置
CN109086571B (zh) * 2018-08-03 2019-08-23 国家卫生健康委科学技术研究所 一种单基因病遗传变异智能解读及报告的方法和系统
US20210110888A1 (en) * 2019-10-11 2021-04-15 Mount Sinai Genomics, Inc. Method and system for assigning risk factors to individuals
CN111192633A (zh) * 2020-01-07 2020-05-22 深圳市早知道科技有限公司 一种预测地中海贫血病表型的方法及终端设备
WO2024158685A1 (en) 2023-01-23 2024-08-02 Illumina, Inc. Inferring microorganism of origin for antimicrobial resistance markers in targeted metagenomics
WO2025101463A1 (en) * 2023-11-08 2025-05-15 Laboratory Corporation Of America Holdings Clinical genetic screening assay with rescue minimization
US20260128173A1 (en) * 2024-11-05 2026-05-07 Ricardo Jorge Fonseca Tavares Godinho Pais Service to Automate the Risk Calculation of Genetic Disorders

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WO1992010588A1 (en) * 1990-12-06 1992-06-25 Affymax Technologies N.V. Sequencing by hybridization of a target nucleic acid to a matrix of defined oligonucleotides
US6168567B1 (en) * 1998-07-09 2001-01-02 Accusphyg, Llc Hybrid sphygmomanometer
ATE556149T1 (de) * 1999-02-23 2012-05-15 Caliper Life Sciences Inc Manipulation von mikropartikeln in mikrofluidischen systemen
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Also Published As

Publication number Publication date
TW201001221A (en) 2010-01-01
TWI460602B (zh) 2014-11-11
US20160103959A1 (en) 2016-04-14
WO2009139929A3 (en) 2010-01-07
EP2288724A2 (en) 2011-03-02
EP2288724B8 (en) 2014-12-17
GB2462952A (en) 2010-03-03
EP2288724A4 (en) 2011-06-01
CN102027137A (zh) 2011-04-20
CA2723296A1 (en) 2009-11-19
IL209108A0 (en) 2011-01-31
WO2009139929A2 (en) 2009-11-19
GB0918412D0 (en) 2009-12-02
US20130225417A1 (en) 2013-08-29
EP2288724B1 (en) 2014-11-12
ES2528028T3 (es) 2015-02-03
US20100022406A1 (en) 2010-01-28
AU2009246875A1 (en) 2009-11-19

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Legal Events

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B11A Dismissal acc. art.33 of ipl - examination not requested within 36 months of filing
B11Y Definitive dismissal - extension of time limit for request of examination expired [chapter 11.1.1 patent gazette]