GB2559437B - Prenatal screening and diagnostic system and method - Google Patents

Prenatal screening and diagnostic system and method

Info

Publication number
GB2559437B
GB2559437B GB1711528.8A GB201711528A GB2559437B GB 2559437 B GB2559437 B GB 2559437B GB 201711528 A GB201711528 A GB 201711528A GB 2559437 B GB2559437 B GB 2559437B
Authority
GB
United Kingdom
Prior art keywords
diagnostic system
prenatal screening
prenatal
screening
diagnostic
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.)
Active
Application number
GB1711528.8A
Other versions
GB201711528D0 (en
GB2559437A (en
Inventor
Lench Nick
Hurles Matt
McGonigle John
Martin Alan
Drury Suzie
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.)
Congenica Ltd
Original Assignee
Congenica Ltd
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 Congenica Ltd filed Critical Congenica Ltd
Priority to GB1711528.8A priority Critical patent/GB2559437B/en
Publication of GB201711528D0 publication Critical patent/GB201711528D0/en
Priority to PCT/EP2018/069559 priority patent/WO2019016289A1/en
Priority to EP18749731.8A priority patent/EP3655954A1/en
Priority to CN201880060321.7A priority patent/CN111433855A/en
Priority to US16/632,071 priority patent/US11869630B2/en
Publication of GB2559437A publication Critical patent/GB2559437A/en
Application granted granted Critical
Publication of GB2559437B publication Critical patent/GB2559437B/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • 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
    • G16B20/20—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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B20/10—Ploidy or copy number 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
    • G16B20/40—Population genetics; Linkage disequilibrium

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
GB1711528.8A 2017-07-18 2017-07-18 Prenatal screening and diagnostic system and method Active GB2559437B (en)

Priority Applications (5)

Application Number Priority Date Filing Date Title
GB1711528.8A GB2559437B (en) 2017-07-18 2017-07-18 Prenatal screening and diagnostic system and method
PCT/EP2018/069559 WO2019016289A1 (en) 2017-07-18 2018-07-18 Screening system and method
EP18749731.8A EP3655954A1 (en) 2017-07-18 2018-07-18 Screening system and method
CN201880060321.7A CN111433855A (en) 2017-07-18 2018-07-18 Screening system and method
US16/632,071 US11869630B2 (en) 2017-07-18 2018-07-18 Screening system and method for determining a presence and an assessment score of cell-free DNA fragments

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
GB1711528.8A GB2559437B (en) 2017-07-18 2017-07-18 Prenatal screening and diagnostic system and method

Publications (3)

Publication Number Publication Date
GB201711528D0 GB201711528D0 (en) 2017-08-30
GB2559437A GB2559437A (en) 2018-08-08
GB2559437B true GB2559437B (en) 2019-03-13

Family

ID=59713626

Family Applications (1)

Application Number Title Priority Date Filing Date
GB1711528.8A Active GB2559437B (en) 2017-07-18 2017-07-18 Prenatal screening and diagnostic system and method

Country Status (1)

Country Link
GB (1) GB2559437B (en)

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019219783A1 (en) 2018-05-16 2019-11-21 Ernst & Young Gmbh Wirtschaftsprüfungsgesellschaft System and method for processing distorted or inaccurate input data obtained from an environment
WO2019219786A1 (en) 2018-05-16 2019-11-21 Ernst & Young Gmbh Wirtschaftsprüfungsgesellschaft Interactive user interface for regression systems that process distorted or erroneous data obtained from an environment
EP4148631A1 (en) 2021-09-08 2023-03-15 Cambridge Quantum Computing Limited Method for reducing quantum circuit depth for amplitude estimation

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109686405B (en) * 2018-11-07 2022-06-28 中国科学院昆明植物研究所海盐工程技术中心 Method for screening potential important genes of group genome based on MK-test

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995017524A2 (en) * 1993-12-23 1995-06-29 Molecular Tool, Inc. Automatic genotype determination
JP2004126857A (en) * 2002-10-01 2004-04-22 Foundation For Nara Institute Of Science & Technology Default data estimating device and method and default data estimating program and recording medium with its program recorded thereon
WO2007113490A1 (en) * 2006-04-03 2007-10-11 Forensic Science Service Limited Improvements in and relating to analysis of mixed source dna profiles

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995017524A2 (en) * 1993-12-23 1995-06-29 Molecular Tool, Inc. Automatic genotype determination
JP2004126857A (en) * 2002-10-01 2004-04-22 Foundation For Nara Institute Of Science & Technology Default data estimating device and method and default data estimating program and recording medium with its program recorded thereon
WO2007113490A1 (en) * 2006-04-03 2007-10-11 Forensic Science Service Limited Improvements in and relating to analysis of mixed source dna profiles

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019219783A1 (en) 2018-05-16 2019-11-21 Ernst & Young Gmbh Wirtschaftsprüfungsgesellschaft System and method for processing distorted or inaccurate input data obtained from an environment
WO2019219786A1 (en) 2018-05-16 2019-11-21 Ernst & Young Gmbh Wirtschaftsprüfungsgesellschaft Interactive user interface for regression systems that process distorted or erroneous data obtained from an environment
EP4148631A1 (en) 2021-09-08 2023-03-15 Cambridge Quantum Computing Limited Method for reducing quantum circuit depth for amplitude estimation

Also Published As

Publication number Publication date
GB201711528D0 (en) 2017-08-30
GB2559437A (en) 2018-08-08

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