CA2964158A1 - Methods and processes for non-invasive assessment of genetic variations - Google Patents

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

Info

Publication number
CA2964158A1
CA2964158A1 CA2964158A CA2964158A CA2964158A1 CA 2964158 A1 CA2964158 A1 CA 2964158A1 CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A1 CA2964158 A1 CA 2964158A1
Authority
CA
Canada
Prior art keywords
portions
chromosome
genomic region
determining
nucleotide sequence
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.)
Pending
Application number
CA2964158A
Other languages
English (en)
French (fr)
Inventor
Cosmin Deciu
Chen Zhao
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.)
Sequenom Inc
Original Assignee
Sequenom 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 Sequenom Inc filed Critical Sequenom Inc
Publication of CA2964158A1 publication Critical patent/CA2964158A1/en
Pending 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
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • C12Q1/6869Methods for sequencing
    • 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
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • 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
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive parallel sequencing

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Algebra (AREA)
CA2964158A 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations Pending CA2964158A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462062748P 2014-10-10 2014-10-10
US62/062,748 2014-10-10
PCT/US2015/054903 WO2016057901A1 (en) 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations

Publications (1)

Publication Number Publication Date
CA2964158A1 true CA2964158A1 (en) 2016-04-14

Family

ID=54352504

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2964158A Pending CA2964158A1 (en) 2014-10-10 2015-10-09 Methods and processes for non-invasive assessment of genetic variations

Country Status (6)

Country Link
US (3) US10892035B2 (https=)
EP (2) EP3730629A1 (https=)
JP (3) JP6971845B2 (https=)
AU (3) AU2015330734B2 (https=)
CA (1) CA2964158A1 (https=)
WO (1) WO2016057901A1 (https=)

Families Citing this family (34)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
HK1206055A1 (en) 2012-03-02 2015-12-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN105190656B (zh) 2013-01-17 2018-01-16 佩索纳里斯公司 用于遗传分析的方法和系统
US11365447B2 (en) 2014-03-13 2022-06-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10125399B2 (en) 2014-10-30 2018-11-13 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
EP3464626B1 (en) 2016-05-27 2022-04-06 Sequenom, Inc. Methods for detecting genetic variations
CA3030894A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
US11929143B2 (en) 2017-01-20 2024-03-12 Sequenom, Inc Methods for non-invasive assessment of copy number alterations
US11352662B2 (en) 2017-01-20 2022-06-07 Sequenom, Inc. Sequence adapter manufacture and use
CA3198931A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
US11694768B2 (en) 2017-01-24 2023-07-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
JP7370862B2 (ja) 2017-03-17 2023-10-30 セクエノム, インコーポレイテッド 遺伝子モザイク症のための方法およびプロセス
EP3655954A1 (en) 2017-07-18 2020-05-27 Congenica Ltd. Screening system and method
GB2564847A (en) * 2017-07-18 2019-01-30 Congenica Ltd Knowledgebase for non-invasive prenatal genetic screening and diagnosis
PL3658689T3 (pl) * 2017-07-26 2021-10-18 Trisomytest, S.R.O. Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską
SK862017A3 (sk) * 2017-08-24 2020-05-04 Grendar Marian Doc Mgr Phd Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní
WO2019226992A1 (en) * 2018-05-24 2019-11-28 The Trustees Of Columbia University In The City Of New York Bacterial capture sequencing platform and methods of designing, constructing and using
KR102287096B1 (ko) * 2019-01-04 2021-08-09 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
CA3128973A1 (en) 2019-03-04 2020-09-10 Bhaskar Bhattacharyya Data compression and communication using machine learning
US20200303033A1 (en) * 2019-03-18 2020-09-24 Nantomics, Llc System and method for data curation
CN112823391B (zh) * 2019-06-03 2024-07-05 Illumina公司 基于检测限的质量控制度量
US11403641B2 (en) * 2019-06-28 2022-08-02 Paypal, Inc. Transactional probability analysis on radial time representation
EP4004559A4 (en) * 2019-07-31 2023-10-04 SomaLogic Operating Co., Inc. METHOD, APPARATUS AND COMPUTER READABLE MEDIUM FOR ADAPTIVE NORMALIZATION OF ANALYTE LEVELS
US20240395357A1 (en) 2019-10-31 2024-11-28 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
EP4055610A4 (en) 2019-11-05 2023-11-29 Personalis, Inc. ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES
EP4168569A4 (en) * 2020-06-18 2024-08-07 Personalis, Inc. Machine-learning techniques for predicting surface-presenting peptides
WO2022035670A1 (en) * 2020-08-09 2022-02-17 Myriad Women's Health, Inc. Bayesian sex caller
CN116134526A (zh) * 2020-08-15 2023-05-16 生命技术公司 具有合成等位基因阶梯库的dna分析仪
KR102795708B1 (ko) * 2020-11-27 2025-04-16 주식회사 지씨지놈 인공지능 기반 암 진단 및 암 종 예측방법
US11688507B2 (en) * 2020-12-29 2023-06-27 Kpn Innovations, Llc. Systems and methods for generating a metabolic dysfunction nourishment program
CN113158950B (zh) * 2021-04-30 2022-04-05 天津深析智能科技发展有限公司 一种重叠染色体自动分割方法
EP4413580A4 (en) 2021-10-05 2025-08-13 Personalis Inc PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING
CN116149049B (zh) * 2023-02-28 2025-07-11 河北工业大学 一种利用非对称脉冲调控超连续谱中光畸形波的方法

Family Cites Families (31)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
CN1703521B (zh) 2002-09-06 2011-11-16 波士顿大学信托人 基因表达的定量
CA2507189C (en) 2002-11-27 2018-06-12 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
EP1641809B2 (en) 2003-07-05 2018-10-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
EP1817430B1 (en) 2004-11-29 2009-09-16 Klinikum der Universität Regensburg Means and methods for detecting methylated dna
EP3260556B1 (en) 2006-05-31 2019-07-31 Sequenom, Inc. Methods for the extraction of nucleic acid from a sample
AU2007260750A1 (en) 2006-06-16 2007-12-21 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
WO2009032781A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
EP3770255A1 (en) 2008-09-16 2021-01-27 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
EP3514244B1 (en) 2009-04-03 2021-07-07 Sequenom, Inc. Nucleic acid preparation methods
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
EP2526415B1 (en) * 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
WO2011143659A2 (en) 2010-05-14 2011-11-17 Fluidigm Corporation Nucleic acid isolation methods
US9139874B2 (en) 2011-07-07 2015-09-22 Life Technologies Corporation Bi-directional sequencing compositions and methods
CA2850785C (en) 2011-10-06 2022-12-13 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3243908B1 (en) 2011-10-11 2019-01-02 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013109981A1 (en) * 2012-01-20 2013-07-25 Sequenom, Inc. Diagnostic processes that factor experimental conditions
DK3663409T3 (da) 2012-05-21 2021-12-13 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL2981921T3 (pl) * 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
EP4604127A3 (en) 2013-05-24 2025-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HUE042654T2 (hu) * 2013-06-21 2019-07-29 Sequenom Inc Eljárás genetikai variációk nem-invazív megállapítására
IL304949B2 (en) 2013-10-04 2025-09-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
KR102429186B1 (ko) * 2013-10-21 2022-08-03 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
WO2016019042A1 (en) * 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

Also Published As

Publication number Publication date
US20250239328A1 (en) 2025-07-24
EP3204512A1 (en) 2017-08-16
JP6971845B2 (ja) 2021-11-24
AU2015330734A1 (en) 2017-04-20
AU2021282416B2 (en) 2024-05-09
US20210272650A1 (en) 2021-09-02
AU2024205243A1 (en) 2024-08-22
WO2016057901A1 (en) 2016-04-14
JP7773301B2 (ja) 2025-11-19
US10892035B2 (en) 2021-01-12
EP3204512B1 (en) 2020-05-06
AU2015330734B2 (en) 2021-10-28
EP3730629A1 (en) 2020-10-28
JP2018500876A (ja) 2018-01-18
AU2021282416A1 (en) 2021-12-23
JP2023022220A (ja) 2023-02-14
US20170316150A1 (en) 2017-11-02
JP2021035387A (ja) 2021-03-04

Similar Documents

Publication Publication Date Title
AU2021282416B2 (en) Methods and processes for non-invasive assessment of genetic variations
US20240161866A1 (en) Methods and Processes for Non-Invasive Assessment of Genetic Variations
US20220415435A1 (en) Methods and processes for non-invasive assessment of genetic variations
US20210174894A1 (en) Methods and processes for non-invasive assessment of genetic variations
US20210158898A1 (en) Methods and processes for non-invasive assessment of genetic variations
AU2015267190B2 (en) Chromosome representation determinations
US20180327844A1 (en) Methods and processes for non-invasive assessment of genetic variations
HK40036430A (en) Methods and processes for non-invasive assessment of genetic variations
HK40092686A (en) Methods and processes for non-invasive assessment of genetic variations
HK40124074A (en) Methods and processes for non-invasive assessment of genetic variations
HK40036239A (en) Methods and processes for non-invasive assessment of genetic variations
HK1218173B (en) Methods and processes for non-invasive assessment of genetic variations

Legal Events

Date Code Title Description
EEER Examination request

Effective date: 20200820

MFA Maintenance fee for application paid

Free format text: FEE DESCRIPTION TEXT: MF (APPLICATION, 9TH ANNIV.) - STANDARD

Year of fee payment: 9

U00 Fee paid

Free format text: ST27 STATUS EVENT CODE: A-2-2-U10-U00-U101 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE REQUEST RECEIVED

Effective date: 20241009

U11 Full renewal or maintenance fee paid

Free format text: ST27 STATUS EVENT CODE: A-2-2-U10-U11-U102 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE FEE PAYMENT DETERMINED COMPLIANT

Effective date: 20241009

Free format text: ST27 STATUS EVENT CODE: A-2-2-U10-U11-U102 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: MAINTENANCE FEE PAYMENT PAID IN FULL

Effective date: 20241009

D15 Examination report completed

Free format text: ST27 STATUS EVENT CODE: A-2-2-D10-D15-D126 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: EXAMINER'S REPORT

Effective date: 20241210

P11 Amendment of application requested

Free format text: ST27 STATUS EVENT CODE: A-2-2-P10-P11-P100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: AMENDMENT RECEIVED - RESPONSE TO EXAMINER'S REQUISITION

Effective date: 20250317

W00 Other event occurred

Free format text: ST27 STATUS EVENT CODE: A-2-2-W10-W00-W111 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: CORRESPONDENT DETERMINED COMPLIANT

Effective date: 20250321

P11 Amendment of application requested

Free format text: ST27 STATUS EVENT CODE: A-2-2-P10-P11-P102 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: AMENDMENT DETERMINED COMPLIANT

Effective date: 20250709

P13 Application amended

Free format text: ST27 STATUS EVENT CODE: A-2-2-P10-P13-X000 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: APPLICATION AMENDED

Effective date: 20250709