JP6971845B2 - 遺伝子の変動の非侵襲的評価のための方法および処理 - Google Patents

遺伝子の変動の非侵襲的評価のための方法および処理 Download PDF

Info

Publication number
JP6971845B2
JP6971845B2 JP2017518990A JP2017518990A JP6971845B2 JP 6971845 B2 JP6971845 B2 JP 6971845B2 JP 2017518990 A JP2017518990 A JP 2017518990A JP 2017518990 A JP2017518990 A JP 2017518990A JP 6971845 B2 JP6971845 B2 JP 6971845B2
Authority
JP
Japan
Prior art keywords
item
nucleic acid
length
nucleotide sequence
genomic region
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
JP2017518990A
Other languages
English (en)
Japanese (ja)
Other versions
JP2018500876A (ja
JP2018500876A5 (enExample
Inventor
コスミン デチウ,
チェン ザオ,
Original Assignee
セクエノム, インコーポレイテッド
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 セクエノム, インコーポレイテッド filed Critical セクエノム, インコーポレイテッド
Publication of JP2018500876A publication Critical patent/JP2018500876A/ja
Publication of JP2018500876A5 publication Critical patent/JP2018500876A5/ja
Priority to JP2020187745A priority Critical patent/JP7773301B2/ja
Application granted granted Critical
Publication of JP6971845B2 publication Critical patent/JP6971845B2/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

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)
  • Genetics & Genomics (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
JP2017518990A 2014-10-10 2015-10-09 遺伝子の変動の非侵襲的評価のための方法および処理 Active JP6971845B2 (ja)

Priority Applications (1)

Application Number Priority Date Filing Date Title
JP2020187745A JP7773301B2 (ja) 2014-10-10 2020-11-11 遺伝子の変動の非侵襲的評価のための方法および処理

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

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2020187745A Division JP7773301B2 (ja) 2014-10-10 2020-11-11 遺伝子の変動の非侵襲的評価のための方法および処理

Publications (3)

Publication Number Publication Date
JP2018500876A JP2018500876A (ja) 2018-01-18
JP2018500876A5 JP2018500876A5 (enExample) 2018-09-27
JP6971845B2 true JP6971845B2 (ja) 2021-11-24

Family

ID=54352504

Family Applications (3)

Application Number Title Priority Date Filing Date
JP2017518990A Active JP6971845B2 (ja) 2014-10-10 2015-10-09 遺伝子の変動の非侵襲的評価のための方法および処理
JP2020187745A Active JP7773301B2 (ja) 2014-10-10 2020-11-11 遺伝子の変動の非侵襲的評価のための方法および処理
JP2022191456A Pending JP2023022220A (ja) 2014-10-10 2022-11-30 遺伝子の変動の非侵襲的評価のための方法および処理

Family Applications After (2)

Application Number Title Priority Date Filing Date
JP2020187745A Active JP7773301B2 (ja) 2014-10-10 2020-11-11 遺伝子の変動の非侵襲的評価のための方法および処理
JP2022191456A Pending JP2023022220A (ja) 2014-10-10 2022-11-30 遺伝子の変動の非侵襲的評価のための方法および処理

Country Status (6)

Country Link
US (3) US10892035B2 (enExample)
EP (2) EP3204512B1 (enExample)
JP (3) JP6971845B2 (enExample)
AU (3) AU2015330734B2 (enExample)
CA (1) CA2964158A1 (enExample)
WO (1) WO2016057901A1 (enExample)

Families Citing this family (33)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2946345B1 (en) 2013-01-17 2024-04-03 Personalis, Inc. Methods and systems for genetic analysis
EP3117011B1 (en) 2014-03-13 2020-05-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP4026913A1 (en) 2014-10-30 2022-07-13 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
EP4043581A1 (en) 2016-05-27 2022-08-17 Sequenom, Inc. Method for generating a paralog assay system
EP3491560A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Genetic copy number alteration classifications
CA3030894A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
EP3571615B1 (en) 2017-01-20 2024-01-24 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
WO2018136881A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Sequencing adapter manufacture and use
CA3049457C (en) 2017-01-20 2023-05-16 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
CA3207879A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
EP3596233B1 (en) 2017-03-17 2022-05-18 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
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
EP3935581A4 (en) 2019-03-04 2022-11-30 Iocurrents, Inc. DATA COMPRESSION AND COMMUNICATION USING MACHINE LEARNING
US20200303033A1 (en) * 2019-03-18 2020-09-24 Nantomics, Llc System and method for data curation
CA3115513A1 (en) * 2019-06-03 2020-12-10 Illumina, Inc. Limit of detection based quality control metric
US11403641B2 (en) * 2019-06-28 2022-08-02 Paypal, Inc. Transactional probability analysis on radial time representation
US20220293227A1 (en) * 2019-07-31 2022-09-15 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
JP7747670B2 (ja) * 2020-06-18 2025-10-01 パーソナリス,インコーポレイティド 表面提示ペプチドを予測するための機械学習技術
US20240038339A1 (en) * 2020-08-09 2024-02-01 Myriad Women's Health, Inc. Bayesian sex caller
BR112023002772A2 (pt) * 2020-08-15 2023-05-02 Life Technologies Corp Analisador de dna com biblioteca de escadas alelicas sintéticas
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
CA2497988C (en) 2002-09-06 2011-03-29 The Trustees Of Boston University Quantification of gene expression
US7820378B2 (en) 2002-11-27 2010-10-26 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
WO2005010145A2 (en) 2003-07-05 2005-02-03 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
AU2005308918B2 (en) 2004-11-29 2012-09-27 Sequenom, Inc. Means and methods for detecting methylated DNA
WO2007140417A2 (en) 2006-05-31 2007-12-06 Sequenom, Inc. Methods and compositions for the extraction and amplification 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
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
EP2195452B1 (en) 2007-08-29 2012-03-14 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
CA2718137A1 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
AU2009293232B2 (en) 2008-09-16 2015-05-14 Sequenom Center For Molecular Medicine 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
EP3211095B1 (en) 2009-04-03 2019-01-02 Sequenom, Inc. Nucleic acid preparation compositions and methods
EP2526415B1 (en) * 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
EP4074838A1 (en) 2010-01-19 2022-10-19 Verinata Health, Inc. Novel protocol for preparing sequencing libraries
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
DK2766496T3 (en) 2011-10-11 2017-05-15 Sequenom Inc METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
CA2861856C (en) * 2012-01-20 2020-06-02 Sequenom, Inc. Diagnostic processes that factor experimental conditions
ES2902401T3 (es) 2012-05-21 2022-03-28 Sequenom Inc Métodos y procesos para la evaluación no invasiva de variaciones genéticas
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
EP4187543A1 (en) * 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3011051B1 (en) * 2013-06-21 2019-01-30 Sequenom, Inc. Method for non-invasive assessment of genetic variations
BR112016007401B1 (pt) 2013-10-04 2023-04-11 Sequenom, Inc. Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra
EP4227947A1 (en) * 2013-10-21 2023-08-16 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
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
US20210272650A1 (en) 2021-09-02
EP3204512A1 (en) 2017-08-16
EP3204512B1 (en) 2020-05-06
US20250239328A1 (en) 2025-07-24
AU2015330734B2 (en) 2021-10-28
CA2964158A1 (en) 2016-04-14
JP2023022220A (ja) 2023-02-14
AU2024205243A1 (en) 2024-08-22
JP2021035387A (ja) 2021-03-04
US10892035B2 (en) 2021-01-12
WO2016057901A1 (en) 2016-04-14
EP3730629A1 (en) 2020-10-28
AU2021282416B2 (en) 2024-05-09
US20170316150A1 (en) 2017-11-02
AU2021282416A1 (en) 2021-12-23
JP2018500876A (ja) 2018-01-18
JP7773301B2 (ja) 2025-11-19
AU2015330734A1 (en) 2017-04-20

Similar Documents

Publication Publication Date Title
JP7773301B2 (ja) 遺伝子の変動の非侵襲的評価のための方法および処理
JP7668255B2 (ja) 遺伝子の変異の非侵襲的な評価のための方法および処理
JP7667825B2 (ja) 染色体提示の決定
US20220415435A1 (en) Methods and processes for non-invasive assessment of genetic variations
JP6318151B2 (ja) 遺伝的変異の非侵襲的評価のための方法およびプロセス
WO2014165596A1 (en) Methods and processes for non-invasive assessment of genetic variations
HK40036430A (en) Methods and processes for non-invasive assessment of genetic variations

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20180817

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20180817

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20190930

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20200106

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20200623

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20200910

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20201111

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20210421

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20210823

C60 Trial request (containing other claim documents, opposition documents)

Free format text: JAPANESE INTERMEDIATE CODE: C60

Effective date: 20210823

A911 Transfer to examiner for re-examination before appeal (zenchi)

Free format text: JAPANESE INTERMEDIATE CODE: A911

Effective date: 20210830

C21 Notice of transfer of a case for reconsideration by examiners before appeal proceedings

Free format text: JAPANESE INTERMEDIATE CODE: C21

Effective date: 20210831

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20211007

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20211102

R150 Certificate of patent or registration of utility model

Ref document number: 6971845

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250