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 (cg-RX-API-DMAC7.html
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

    • 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
    • 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
    • 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
    • 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive 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)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (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)
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 (cg-RX-API-DMAC7.html) 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 (cg-RX-API-DMAC7.html)
EP (2) EP3730629A1 (cg-RX-API-DMAC7.html)
JP (3) JP6971845B2 (cg-RX-API-DMAC7.html)
AU (3) AU2015330734B2 (cg-RX-API-DMAC7.html)
CA (1) CA2964158A1 (cg-RX-API-DMAC7.html)
WO (1) WO2016057901A1 (cg-RX-API-DMAC7.html)

Families Citing this family (34)

* 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
EP3736344A1 (en) 2014-03-13 2020-11-11 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
US20170342477A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for Detecting Genetic Variations
US11200963B2 (en) 2016-07-27 2021-12-14 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
EP4235676A3 (en) 2017-01-20 2023-10-18 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
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
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
WO2018170511A1 (en) 2017-03-17 2018-09-20 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
EP3814480A4 (en) * 2018-05-24 2022-03-09 The Trustees of Columbia University in the City of New York PLATFORM FOR CAPTURE AND SEQUENCING BACTERIA AND METHODS OF DESIGN, CONSTRUCTION AND USE
KR102287096B1 (ko) * 2019-01-04 2021-08-09 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
WO2020180424A1 (en) 2019-03-04 2020-09-10 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
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
CA3147432A1 (en) * 2019-07-31 2021-02-04 Somalogic, Inc. Method, apparatus, and computer-readable medium for adaptive normalization of analyte levels
WO2021087491A1 (en) 2019-10-31 2021-05-06 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
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
US8034567B2 (en) 2002-09-06 2011-10-11 Trustees Of Boston University Quantification of gene expression
WO2004050839A2 (en) 2002-11-27 2004-06-17 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
CN101243191B (zh) 2004-11-29 2014-04-16 塞昆纳姆股份有限公司 用于检测甲基化dna的手段和方法
EP2029777B1 (en) 2006-05-31 2017-03-08 Sequenom, Inc. Methods and compositions for the extraction of nucleic acid from a sample
CN101501251A (zh) 2006-06-16 2009-08-05 塞昆纳姆股份有限公司 扩增、检测和定量样品中核酸的方法和组合物
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation 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
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
DK2329021T3 (en) 2008-09-16 2016-10-24 Sequenom Inc Methods and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample suitable 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
CA2757493C (en) 2009-04-03 2018-11-13 Sequenom, Inc. Nucleic acid preparation compositions and methods
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US8700341B2 (en) * 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
SG185544A1 (en) 2010-05-14 2012-12-28 Fluidigm Corp 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
CA2851537C (en) 2011-10-11 2020-12-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム， インコーポレイテッド 実験条件を要因として含める診断プロセス
EP4276194A3 (en) 2012-05-21 2024-03-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10622094B2 (en) 2013-06-21 2020-04-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
IL320112A (en) 2013-10-04 2025-06-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
EP3760739B1 (en) * 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

Also Published As

Publication number Publication date
AU2015330734A1 (en) 2017-04-20
JP2018500876A (ja) 2018-01-18
US10892035B2 (en) 2021-01-12
EP3204512B1 (en) 2020-05-06
US20170316150A1 (en) 2017-11-02
EP3730629A1 (en) 2020-10-28
JP7773301B2 (ja) 2025-11-19
JP2021035387A (ja) 2021-03-04
US20250239328A1 (en) 2025-07-24
AU2021282416A1 (en) 2021-12-23
CA2964158A1 (en) 2016-04-14
AU2021282416B2 (en) 2024-05-09
JP2023022220A (ja) 2023-02-14
AU2024205243A1 (en) 2024-08-22
AU2015330734B2 (en) 2021-10-28
US20210272650A1 (en) 2021-09-02
EP3204512A1 (en) 2017-08-16
WO2016057901A1 (en) 2016-04-14

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
EP2981921A1 (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