US20230112134A1 - Methods and processes for non-invasive assessment of genetic variations - Google Patents

Methods and processes for non-invasive assessment of genetic variations Download PDF

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Publication number
US20230112134A1
US20230112134A1 US18/080,620 US202218080620A US2023112134A1 US 20230112134 A1 US20230112134 A1 US 20230112134A1 US 202218080620 A US202218080620 A US 202218080620A US 2023112134 A1 US2023112134 A1 US 2023112134A1
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United States
Prior art keywords
nucleic acid
sample
counts
sequencing
fetal
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Pending
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US18/080,620
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English (en)
Inventor
Cosmin Deciu
Zeljko Jovan Dzakula
Mathias Ehrich
Sung Kyun Kim
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Sequenom Inc
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Sequenom Inc
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Priority claimed from US13/669,136 external-priority patent/US9367663B2/en
Application filed by Sequenom Inc filed Critical Sequenom Inc
Priority to US18/080,620 priority Critical patent/US20230112134A1/en
Assigned to SEQUENOM, INC. reassignment SEQUENOM, INC. ASSIGNMENT OF ASSIGNORS INTEREST (SEE DOCUMENT FOR DETAILS). Assignors: DECIU, COSMIN, EHRICH, MATHIAS, KIM, SUNG KYUN, DZAKULA, ZELJKO
Publication of US20230112134A1 publication Critical patent/US20230112134A1/en
Pending legal-status Critical Current

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    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B30/20—Sequence assembly
    • 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
    • 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
    • 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
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • Y—GENERAL 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
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation
US18/080,620 2011-10-06 2022-12-13 Methods and processes for non-invasive assessment of genetic variations Pending US20230112134A1 (en)

Priority Applications (1)

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US18/080,620 US20230112134A1 (en) 2011-10-06 2022-12-13 Methods and processes for non-invasive assessment of genetic variations

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US201161544251P 2011-10-06 2011-10-06
US201261663477P 2012-06-22 2012-06-22
US201261709899P 2012-10-04 2012-10-04
PCT/US2012/059123 WO2013052913A2 (fr) 2011-10-06 2012-10-05 Procédés et processus d'évaluation non invasive de variations génétiques
US13/669,136 US9367663B2 (en) 2011-10-06 2012-11-05 Methods and processes for non-invasive assessment of genetic variations
US15/149,045 US10323268B2 (en) 2011-10-06 2016-05-06 Methods and processes for non-invasive assessment of genetic variations
US16/395,658 US11560586B2 (en) 2011-10-06 2019-04-26 Methods and processes for non-invasive assessment of genetic variations
US18/080,620 US20230112134A1 (en) 2011-10-06 2022-12-13 Methods and processes for non-invasive assessment of genetic variations

Related Parent Applications (1)

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US16/395,658 Continuation US11560586B2 (en) 2011-10-06 2019-04-26 Methods and processes for non-invasive assessment of genetic variations

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US20230112134A1 true US20230112134A1 (en) 2023-04-13

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US18/080,620 Pending US20230112134A1 (en) 2011-10-06 2022-12-13 Methods and processes for non-invasive assessment of genetic variations

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US (1) US20230112134A1 (fr)
EP (2) EP3922731A3 (fr)
JP (3) JP6073902B2 (fr)
AU (1) AU2012318371B2 (fr)
CA (1) CA2850781C (fr)
DK (1) DK2764459T3 (fr)
ES (1) ES2886508T3 (fr)
HK (1) HK1200934A1 (fr)
WO (1) WO2013052913A2 (fr)

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AU2012318371B2 (en) 2018-03-22
WO2013052913A3 (fr) 2013-11-07
WO2013052913A2 (fr) 2013-04-11
JP6227095B2 (ja) 2017-11-08
EP2764459B1 (fr) 2021-06-30
JP6073902B2 (ja) 2017-02-01
JP2017099419A (ja) 2017-06-08
HK1200934A1 (en) 2015-08-14
CA2850781C (fr) 2020-09-01
DK2764459T3 (da) 2021-08-23
CA2850781A1 (fr) 2013-04-11
ES2886508T3 (es) 2021-12-20
JP2017073144A (ja) 2017-04-13
AU2012318371A1 (en) 2014-04-17
EP3922731A3 (fr) 2022-01-05
EP2764459A2 (fr) 2014-08-13
EP3922731A2 (fr) 2021-12-15
WO2013052913A4 (fr) 2013-12-27
JP2014534507A (ja) 2014-12-18

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