GB2485635B - Method for determining the presence or absence of different aneuploidies in a sample - Google Patents

Method for determining the presence or absence of different aneuploidies in a sample

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Publication number
GB2485635B
GB2485635B GB1114713.9A GB201114713A GB2485635B GB 2485635 B GB2485635 B GB 2485635B GB 201114713 A GB201114713 A GB 201114713A GB 2485635 B GB2485635 B GB 2485635B
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GB
United Kingdom
Prior art keywords
absence
sample
determining
different aneuploidies
aneuploidies
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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
GB1114713.9A
Other versions
GB201114713D0 (en
GB2485635A (en
Inventor
Richard P Rava
David A Comstock
Brian K Rhees
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Verinata Health Inc
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Verinata Health Inc
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Publication of GB201114713D0 publication Critical patent/GB201114713D0/en
Publication of GB2485635A publication Critical patent/GB2485635A/en
Application granted granted Critical
Publication of GB2485635B publication Critical patent/GB2485635B/en
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    • 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6872—Methods for sequencing involving mass spectrometry
    • 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
    • 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
    • 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
    • G16B15/00—ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment
    • 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
    • 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
    • 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
    • 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
    • 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
    • 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
    • G16B99/00—Subject matter not provided for in other groups of this subclass

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  • Life Sciences & Earth Sciences (AREA)
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  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
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  • General Health & Medical Sciences (AREA)
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  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
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  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
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  • General Engineering & Computer Science (AREA)
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  • Evolutionary Computation (AREA)
  • Public Health (AREA)
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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
GB1114713.9A 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample Active GB2485635B (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/US2011/045412 WO2013015793A1 (en) 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample

Publications (3)

Publication Number Publication Date
GB201114713D0 GB201114713D0 (en) 2011-10-12
GB2485635A GB2485635A (en) 2012-05-23
GB2485635B true GB2485635B (en) 2012-11-28

Family

ID=44838718

Family Applications (1)

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GB1114713.9A Active GB2485635B (en) 2011-07-26 2011-07-26 Method for determining the presence or absence of different aneuploidies in a sample

Country Status (9)

Country Link
EP (1) EP2563937A1 (en)
JP (1) JP6161607B2 (en)
KR (1) KR101974492B1 (en)
CN (1) CN103003447B (en)
AU (1) AU2011373694A1 (en)
CA (1) CA2840418C (en)
GB (1) GB2485635B (en)
HK (1) HK1174063A1 (en)
WO (1) WO2013015793A1 (en)

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US9657342B2 (en) 2010-01-19 2017-05-23 Verinata Health, Inc. Sequencing methods for prenatal diagnoses

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US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
CA2832468C (en) 2011-04-12 2023-10-31 Verinata Health, Inc. Resolving genome fractions using polymorphism counts
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
AU2013204536A1 (en) * 2012-07-20 2014-02-06 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
AU2019200162B2 (en) * 2012-07-20 2021-10-07 Verinata Health, Inc. Detecting and classifying copy number variation
CA2878246C (en) * 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
AU2013302867A1 (en) 2012-08-13 2015-02-26 The Regents Of The University Of California Methods and systems for detecting biological components
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
WO2014200579A1 (en) * 2013-06-13 2014-12-18 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
CN105722994B (en) * 2013-06-17 2020-12-18 维里纳塔健康公司 Method for determining copy number variation in chromosomes
US20160154931A1 (en) * 2013-07-17 2016-06-02 Bgi Genomics Co., Limited Method and device for detecting chromosomal aneuploidy
ES2968644T3 (en) 2013-10-04 2024-05-13 Sequenom Inc Methods and procedures for the non-invasive evaluation of genetic variations
KR102429186B1 (en) * 2013-10-21 2022-08-03 베리나타 헬스, 인코포레이티드 Method for improving the sensitivity of detection in determining copy number variations
CN105765076B (en) * 2013-12-17 2019-07-19 深圳华大基因股份有限公司 A kind of chromosomal aneuploidy detection method and device
EP3149199B1 (en) * 2014-05-30 2020-03-25 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
EP3160654A4 (en) 2014-06-27 2017-11-15 The Regents of The University of California Pcr-activated sorting (pas)
CN106795551B (en) * 2014-09-26 2020-11-20 深圳华大基因股份有限公司 CNV analysis method and detection device for single cell chromosome
EP3209419A4 (en) 2014-10-22 2018-10-03 The Regents of The University of California High definition microdroplet printer
US11072814B2 (en) * 2014-12-12 2021-07-27 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP3766986B1 (en) * 2014-12-31 2022-06-01 Guardant Health, Inc. Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
EP3253479B1 (en) 2015-02-04 2022-09-21 The Regents of The University of California Sequencing of nucleic acids via barcoding in discrete entities
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CN104745718B (en) * 2015-04-23 2018-02-16 北京中仪康卫医疗器械有限公司 A kind of method for detecting human embryos microdeletion and micro- repetition
US10844428B2 (en) * 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
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AU2016321204B2 (en) 2015-09-08 2022-12-01 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
WO2017083828A1 (en) * 2015-11-12 2017-05-18 Samuel Williams Rapid sequencing of short dna fragments using nanopore technology
CN108475301A (en) * 2015-12-04 2018-08-31 绿十字基因组公司 The method of copy number variation in sample for determining the mixture comprising nucleic acid
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
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CA3047328A1 (en) 2016-12-21 2018-06-28 The Regents Of The University Of California Single cell genomic sequencing using hydrogel based droplets
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Cited By (1)

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Publication number Priority date Publication date Assignee Title
US9657342B2 (en) 2010-01-19 2017-05-23 Verinata Health, Inc. Sequencing methods for prenatal diagnoses

Also Published As

Publication number Publication date
WO2013015793A1 (en) 2013-01-31
EP2563937A1 (en) 2013-03-06
GB201114713D0 (en) 2011-10-12
AU2011373694A1 (en) 2013-05-02
CN103003447A (en) 2013-03-27
CA2840418A1 (en) 2013-01-31
KR20140050032A (en) 2014-04-28
HK1174063A1 (en) 2013-05-31
KR101974492B1 (en) 2019-05-02
JP6161607B2 (en) 2017-07-12
JP2014521334A (en) 2014-08-28
CA2840418C (en) 2019-10-29
GB2485635A (en) 2012-05-23
CN103003447B (en) 2020-08-25

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