KR101489568B1 - 태아 유전학적 이상의 비침습성 검출 - Google Patents

태아 유전학적 이상의 비침습성 검출 Download PDF

Info

Publication number
KR101489568B1
KR101489568B1 KR1020127034453A KR20127034453A KR101489568B1 KR 101489568 B1 KR101489568 B1 KR 101489568B1 KR 1020127034453 A KR1020127034453 A KR 1020127034453A KR 20127034453 A KR20127034453 A KR 20127034453A KR 101489568 B1 KR101489568 B1 KR 101489568B1
Authority
KR
South Korea
Prior art keywords
chromosome
delete delete
coverage depth
content
chromosomal
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
KR1020127034453A
Other languages
English (en)
Korean (ko)
Other versions
KR20140023847A (ko
Inventor
푸만 지앙
후이페이 첸
시앙후아 차이
유잉 유안
시우칭 장
팡 첸
Original Assignee
비지아이 헬스 서비스 코포레이션 리미티드
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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=47392194&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=KR101489568(B1) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by 비지아이 헬스 서비스 코포레이션 리미티드 filed Critical 비지아이 헬스 서비스 코포레이션 리미티드
Publication of KR20140023847A publication Critical patent/KR20140023847A/ko
Application granted granted Critical
Publication of KR101489568B1 publication Critical patent/KR101489568B1/ko
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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • 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
    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
KR1020127034453A 2011-06-29 2011-06-29 태아 유전학적 이상의 비침습성 검출 Active KR101489568B1 (ko)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2011/001070 WO2013000100A1 (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Publications (2)

Publication Number Publication Date
KR20140023847A KR20140023847A (ko) 2014-02-27
KR101489568B1 true KR101489568B1 (ko) 2015-02-03

Family

ID=47392194

Family Applications (1)

Application Number Title Priority Date Filing Date
KR1020127034453A Active KR101489568B1 (ko) 2011-06-29 2011-06-29 태아 유전학적 이상의 비침습성 검출

Country Status (17)

Country Link
US (1) US9547748B2 (enExample)
EP (1) EP2561103B1 (enExample)
JP (1) JP5659319B2 (enExample)
KR (1) KR101489568B1 (enExample)
CN (1) CN103403183B (enExample)
AU (1) AU2012261664B2 (enExample)
BR (1) BR112012033760B1 (enExample)
CA (2) CA2948939C (enExample)
DK (1) DK2561103T3 (enExample)
ES (1) ES2512448T3 (enExample)
MY (1) MY172864A (enExample)
PL (1) PL2561103T3 (enExample)
RU (1) RU2589681C2 (enExample)
SG (1) SG191757A1 (enExample)
SI (1) SI2561103T1 (enExample)
WO (1) WO2013000100A1 (enExample)
ZA (1) ZA201209583B (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2017051996A1 (ko) * 2015-09-24 2017-03-30 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법

Families Citing this family (64)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
CN103403183B (zh) 2011-06-29 2014-10-15 深圳华大基因医学有限公司 胎儿遗传异常的无创性检测
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 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
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 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
US10844424B2 (en) 2013-02-20 2020-11-24 Bionano Genomics, Inc. Reduction of bias in genomic coverage measurements
JP6542676B2 (ja) * 2013-02-20 2019-07-10 バイオナノ ジェノミクス、 インコーポレイテッド ナノフルイディクスにおける分子の特性解析
WO2014133369A1 (ko) * 2013-02-28 2014-09-04 주식회사 테라젠이텍스 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치
EP4187543A1 (en) * 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
IL300163B2 (en) * 2013-05-24 2024-06-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
CA2898747C (en) * 2013-06-13 2021-09-21 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
JP6473744B2 (ja) * 2013-06-21 2019-02-20 セクエノム， インコーポレイテッド 遺伝子の変動の非侵襲的評価のための方法および処理
DK3053071T3 (da) * 2013-10-04 2024-01-22 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer
CN111863131A (zh) 2013-10-07 2020-10-30 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
CN103525939B (zh) * 2013-10-28 2015-12-02 博奥生物集团有限公司 无创检测胎儿染色体非整倍体的方法和系统
CN106164295B (zh) 2014-02-25 2020-08-11 生物纳米基因公司 减小基因组覆盖测量中的偏差
CA2950596C (en) * 2014-05-30 2023-10-31 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
CN104156631B (zh) * 2014-07-14 2017-07-18 天津华大基因科技有限公司 染色体三倍体检验方法
WO2016010401A1 (ko) * 2014-07-18 2016-01-21 에스케이텔레콘 주식회사 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법
US20160034640A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN106795551B (zh) * 2014-09-26 2020-11-20 深圳华大基因股份有限公司 单细胞染色体的cnv分析方法和检测装置
EP3230469B1 (en) 2014-12-12 2019-04-03 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
CN104789466B (zh) * 2015-05-06 2018-03-13 安诺优达基因科技(北京)有限公司 检测染色体非整倍性的试剂盒和装置
BE1022789B1 (nl) * 2015-07-17 2016-09-06 Multiplicom Nv Werkwijze en systeem voor geslachtsinschatting van een foetus van een zwangere vrouw
KR101817785B1 (ko) * 2015-08-06 2018-01-11 이원다이애그노믹스(주) 다양한 플랫폼에서 태아의 성별과 성염색체 이상을 구분할 수 있는 새로운 방법
KR101678962B1 (ko) 2015-08-21 2016-12-06 이승재 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법
CN105354443A (zh) * 2015-12-14 2016-02-24 孔祥军 无创产前基因检测分析软件
CN105483229B (zh) * 2015-12-21 2018-10-16 广东腾飞基因科技股份有限公司 一种检测胎儿染色体非整倍体的方法及系统
KR101817180B1 (ko) * 2016-01-20 2018-01-10 이원다이애그노믹스(주) 염색체 이상 판단 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CA3014292A1 (en) * 2016-02-12 2017-08-17 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
JP6785068B2 (ja) * 2016-05-31 2020-11-18 富士フイルム株式会社 生物情報解析方法
CN106096330B (zh) * 2016-05-31 2019-02-01 北京百迈客医学检验所有限公司 一种无创产前生物信息检测分析方法
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
JP7237003B2 (ja) 2017-01-24 2023-03-10 セクエノム， インコーポレイテッド 遺伝子片の評価のための方法およびプロセス
EP3575399B1 (en) 2017-01-24 2024-10-09 BGI Shenzhen Exosomal dna-based method for performing non-invasive prenatal diagnosis and application thereof
EP3596233B1 (en) 2017-03-17 2022-05-18 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
JP2020512000A (ja) * 2017-03-31 2020-04-23 プレマイサ リミテッド 胎児の染色体異常を検出する方法
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
EP4650456A3 (en) 2018-01-05 2026-01-21 BillionToOne, Inc. Quality control templates for ensuring validity of sequencing-based assays
CN111868254A (zh) * 2018-04-09 2020-10-30 深圳华大生命科学研究院 基因文库的构建方法及其应用
WO2019205132A1 (zh) * 2018-04-28 2019-10-31 深圳华大生命科学研究院 一种胎儿游离核酸的富集方法及其应用
CN111373054B (zh) * 2018-05-31 2024-06-25 深圳华大临床检验中心 确定男性待测样本是否存在三倍体的方法、系统和计算机可读介质
CN109192243B (zh) * 2018-08-13 2021-03-12 成都凡迪医学检验所有限公司 染色体比例的修正方法、装置、介质
CA3111813A1 (en) * 2018-09-07 2020-03-12 Illumina, Inc. A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy
KR20200106643A (ko) 2019-03-05 2020-09-15 (주)인실리코젠 바코드 서열 정보 기반 고민감도 유전변이 탐지 및 레포팅 시스템
WO2020226528A1 (ru) * 2019-05-08 2020-11-12 Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" Способ определения кариотипа плода беременной женщины
CN110211654A (zh) * 2019-05-30 2019-09-06 湖南自兴智慧医疗科技有限公司 一种自动隐藏性别信息的核型检测系统及方法
CN111627498B (zh) * 2020-05-21 2022-10-04 北京吉因加医学检验实验室有限公司 一种测序数据gc偏向性校正的方法及其装置
RU2752783C1 (ru) * 2020-12-18 2021-08-03 Федеральное государственное бюджетное учреждение "Ивановский научно-исследовательский институт материнства и детства имени В.Н. Городкова" Министерства здравоохранения Российской Федерации Способ прогнозирования анеуплоидии эмбрионов в программе экстракорпорального оплодотворения у женщин с эндометриоз-ассоциированным бесплодием
US20240355415A1 (en) * 2021-09-03 2024-10-24 Institut National De La Sante Et De La Recherche Medicale Methods and devices for non-invasive prenatal testing
US12043873B2 (en) 2022-03-21 2024-07-23 Billiontoone, Inc. Molecule counting of methylated cell-free DNA for treatment monitoring
WO2025208288A1 (zh) * 2024-04-01 2025-10-09 深圳华大生命科学研究院 基因预测方法、装置、计算机设备及计算机可读存储介质
CN119936386B (zh) * 2025-01-21 2025-12-16 北京航空航天大学杭州创新研究院 一种单分子免疫检测原料及其检测方法

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20080070792A1 (en) * 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
WO2010033578A2 (en) * 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities

Family Cites Families (27)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10021A (en) * 1853-09-13 Screw-eastemtito- for boots and shoes
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
US6492144B1 (en) 1997-05-30 2002-12-10 Diagen Corporation Methods for detection of nucleic acid sequences in urine
EP0920539B9 (en) 1997-05-30 2006-08-02 Xenomics Methods for detection of nucleic acid sequences in urine
USRE39920E1 (en) 1997-05-30 2007-11-13 Xenomics, Inc. Methods for detection of nucleic acid sequences in urine
US20020119478A1 (en) 1997-05-30 2002-08-29 Diagen Corporation Methods for detection of nucleic acid sequences in urine
WO2005007869A2 (en) 2003-07-10 2005-01-27 Third Wave Technologies, Inc. Assays for the direct measurement of gene dosage
EP1524321B2 (en) 2003-10-16 2014-07-23 Sequenom, Inc. Non-invasive detection of fetal genetic traits
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
SI3002338T1 (sl) 2006-02-02 2019-11-29 Univ Leland Stanford Junior Neinvaziven genetski pregled zarodka z digitalno analizo
SI2351858T1 (sl) 2006-02-28 2015-06-30 University Of Louisville Research Foundation Med Center Three, Zaznavanje fetalnih kromosomskih nenormalnosti z uporabo tandema polimorfizmov posameznih nukleotidov
US20100184044A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
US20100184043A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
WO2007112418A2 (en) 2006-03-28 2007-10-04 Baylor College Of Medicine Screening for down syndrome
US20080124721A1 (en) 2006-06-14 2008-05-29 Martin Fuchs Analysis of rare cell-enriched samples
US20080026390A1 (en) 2006-06-14 2008-01-31 Roland Stoughton Diagnosis of Fetal Abnormalities by Comparative Genomic Hybridization Analysis
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
AU2007260676A1 (en) 2006-06-14 2007-12-21 Artemis Health, Inc. Rare cell analysis using sample splitting and DNA tags
US8372584B2 (en) 2006-06-14 2013-02-12 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
WO2008014516A2 (en) 2006-07-28 2008-01-31 Living Microsystems, Inc. Selection of cells using biomarkers
EP2140027B1 (en) 2006-12-07 2012-07-18 Novartis AG Non-invasive prenatal genetic screen
CA3076142C (en) 2007-07-23 2023-01-03 The Chinese University Of Hong Kong Analyzing tumor dna in a cell-free sample
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CN103403183B (zh) 2011-06-29 2014-10-15 深圳华大基因医学有限公司 胎儿遗传异常的无创性检测

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20080070792A1 (en) * 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
WO2010033578A2 (en) * 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
PLoS ONE, March 2010, vol 5, Issue 5, pages 1-7 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2017051996A1 (ko) * 2015-09-24 2017-03-30 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법

Also Published As

Publication number Publication date
JP2014520509A (ja) 2014-08-25
EP2561103A4 (en) 2013-08-07
AU2012261664A1 (en) 2013-01-17
RU2589681C2 (ru) 2016-07-10
US20140099642A1 (en) 2014-04-10
CA2791118C (en) 2019-05-07
PL2561103T3 (pl) 2015-02-27
CA2948939C (en) 2021-02-02
ZA201209583B (en) 2014-01-29
CN103403183B (zh) 2014-10-15
SG191757A1 (en) 2013-08-30
JP5659319B2 (ja) 2015-01-28
HK1190758A1 (en) 2014-07-11
BR112012033760A2 (pt) 2018-02-27
AU2012261664B2 (en) 2014-07-03
RU2012158107A (ru) 2015-08-10
BR112012033760B1 (pt) 2020-11-17
DK2561103T3 (da) 2014-10-20
MY172864A (en) 2019-12-13
WO2013000100A1 (en) 2013-01-03
CN103403183A (zh) 2013-11-20
ES2512448T3 (es) 2014-10-24
CA2948939A1 (en) 2012-12-29
EP2561103A1 (en) 2013-02-27
EP2561103B1 (en) 2014-08-27
KR20140023847A (ko) 2014-02-27
CA2791118A1 (en) 2012-12-29
US9547748B2 (en) 2017-01-17
SI2561103T1 (sl) 2014-11-28

Similar Documents

Publication Publication Date Title
KR101489568B1 (ko) 태아 유전학적 이상의 비침습성 검출
CN104120181B (zh) 对染色体测序结果进行gc校正的方法及装置
KR102184868B1 (ko) 카피수 변이를 판정하기 위한 dna 단편 크기의 사용
JP6161607B2 (ja) サンプルにおける異なる異数性の有無を決定する方法
TWI641834B (zh) 藉由大量平行ｒｎａ定序之母體血漿轉錄體分析
CA3010254C (en) Size-based analysis of fetal dna fraction in maternal plasma
KR102605749B1 (ko) 자간전증에 특이적인 순환 rna 시그니처
HUE030510T2 (hu) Magzati kromoszómális aneuploidia diagnosztizálása genomszekvenálás alkalmazásával
JP2015512264A (ja) コピー数変異を検出する方法及びシステム
TW201418474A (zh) 來自血漿之胚胎或腫瘤甲基化模式組（ｍｅｔｈｙｌｏｍｅ）之非侵入性測定
EP3018213A1 (en) Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
WO2019025004A1 (en) METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETUS SEX CHROMOSOMAL ABNORMALITY AND FETUS SEX DETERMINATION FOR SINGLE PREGNANCY AND GEEMELLAR PREGNANCY
WO2015035555A1 (zh) 用于确定胎儿是否存在性染色体数目异常的方法、系统和计算机可读介质
WO2018186687A1 (ko) 생물학적 시료의 핵산 품질을 결정하는 방법
TWI489305B (zh) 對胎兒遺傳異常的無創性檢測
HK1190758B (en) Noninvasive detection of fetal genetic abnormality
Wang et al. Development of a Multiplex ddPCR Detection Method for Accurate Non-Invasive Prenatal Testing of Trisomy 21
CN118136111A (zh) 基因组序列比对方法及其装置
HK40080902A (en) Gene methylation markers or combinations thereof for concomitant diagnosis of her2 in gastric carcinoma, and use thereof
CN115044671A (zh) 可用于胃癌her2伴随诊断的基因甲基化标记物或其组合和应用
HK1224707A (en) Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
HK1224707A1 (en) Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids

Legal Events

Date Code Title Description
PA0105 International application

St.27 status event code: A-0-1-A10-A15-nap-PA0105

N231 Notification of change of applicant
PN2301 Change of applicant

St.27 status event code: A-3-3-R10-R13-asn-PN2301

St.27 status event code: A-3-3-R10-R11-asn-PN2301

PG1501 Laying open of application

St.27 status event code: A-1-1-Q10-Q12-nap-PG1501

A201 Request for examination
A302 Request for accelerated examination
E13-X000 Pre-grant limitation requested

St.27 status event code: A-2-3-E10-E13-lim-X000

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

PA0201 Request for examination

St.27 status event code: A-1-2-D10-D11-exm-PA0201

PA0302 Request for accelerated examination

St.27 status event code: A-1-2-D10-D17-exm-PA0302

St.27 status event code: A-1-2-D10-D16-exm-PA0302

E902 Notification of reason for refusal
PE0902 Notice of grounds for rejection

St.27 status event code: A-1-2-D10-D21-exm-PE0902

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

E701 Decision to grant or registration of patent right
PE0701 Decision of registration

St.27 status event code: A-1-2-D10-D22-exm-PE0701

GRNT Written decision to grant
PR0701 Registration of establishment

St.27 status event code: A-2-4-F10-F11-exm-PR0701

PR1002 Payment of registration fee

St.27 status event code: A-2-2-U10-U12-oth-PR1002

Fee payment year number: 1

PG1601 Publication of registration

St.27 status event code: A-4-4-Q10-Q13-nap-PG1601

J204 Request for invalidation trial [patent]
PJ0204 Invalidation trial for patent

St.27 status event code: A-5-5-V10-V11-apl-PJ0204

J801 Dismissal of trial

Free format text: REJECTION OF TRIAL FOR INVALIDATION REQUESTED 20150430

Effective date: 20150723

Free format text: TRIAL NUMBER: 2015100003010; REJECTION OF TRIAL FOR INVALIDATION REQUESTED 20150430

Effective date: 20150723

PJ0801 Rejection of trial

St.27 status event code: A-5-5-V10-V13-apl-PJ0801

R18-X000 Changes to party contact information recorded

St.27 status event code: A-5-5-R10-R18-oth-X000

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 4

FPAY Annual fee payment

Payment date: 20181226

Year of fee payment: 5

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 5

P22-X000 Classification modified

St.27 status event code: A-4-4-P10-P22-nap-X000

P22-X000 Classification modified

St.27 status event code: A-4-4-P10-P22-nap-X000

P22-X000 Classification modified

St.27 status event code: A-4-4-P10-P22-nap-X000

FPAY Annual fee payment

Payment date: 20191226

Year of fee payment: 6

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 6

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 7

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 8

P22-X000 Classification modified

St.27 status event code: A-4-4-P10-P22-nap-X000

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 9

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 10

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 11

PR1001 Payment of annual fee

St.27 status event code: A-4-4-U10-U11-oth-PR1001

Fee payment year number: 12