KR20170125044A - 암 스크리닝 및 태아 분석을 위한 돌연변이 검출법 - Google Patents

암 스크리닝 및 태아 분석을 위한 돌연변이 검출법 Download PDF

Info

Publication number
KR20170125044A
KR20170125044A KR1020177025432A KR20177025432A KR20170125044A KR 20170125044 A KR20170125044 A KR 20170125044A KR 1020177025432 A KR1020177025432 A KR 1020177025432A KR 20177025432 A KR20177025432 A KR 20177025432A KR 20170125044 A KR20170125044 A KR 20170125044A
Authority
KR
South Korea
Prior art keywords
candidate
sequence
mutation
identifying
threshold
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
KR1020177025432A
Other languages
English (en)
Korean (ko)
Inventor
유크-밍 데니스 로
로사 와이 쿤 치우
관 치 찬
페이용 지앙
Original Assignee
더 차이니즈 유니버시티 오브 홍콩
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 더 차이니즈 유니버시티 오브 홍콩 filed Critical 더 차이니즈 유니버시티 오브 홍콩
Publication of KR20170125044A publication Critical patent/KR20170125044A/ko
Pending legal-status Critical Current

Links

Images

Classifications

    • G06F19/18
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/50Mutagenesis
    • 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
    • C12Q1/6806Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • G06F19/22
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • 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
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/154Methylation markers
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
KR1020177025432A 2015-02-10 2016-02-14 암 스크리닝 및 태아 분석을 위한 돌연변이 검출법 Pending KR20170125044A (ko)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201562114471P 2015-02-10 2015-02-10
US62/114,471 2015-02-10
US201562271196P 2015-12-22 2015-12-22
US62/271,196 2015-12-22
PCT/CN2016/073753 WO2016127944A1 (en) 2015-02-10 2016-02-14 Detecting mutations for cancer screening and fetal analysis

Publications (1)

Publication Number Publication Date
KR20170125044A true KR20170125044A (ko) 2017-11-13

Family

ID=56615337

Family Applications (1)

Application Number Title Priority Date Filing Date
KR1020177025432A Pending KR20170125044A (ko) 2015-02-10 2016-02-14 암 스크리닝 및 태아 분석을 위한 돌연변이 검출법

Country Status (14)

Country Link
US (3) US10240209B2 (enExample)
EP (2) EP3256605B1 (enExample)
JP (3) JP6829211B2 (enExample)
KR (1) KR20170125044A (enExample)
CN (2) CN113957124A (enExample)
AU (2) AU2016218631B2 (enExample)
CA (1) CA2976303A1 (enExample)
DK (1) DK3256605T3 (enExample)
ES (1) ES2908347T3 (enExample)
HU (1) HUE058263T2 (enExample)
PT (1) PT3256605T (enExample)
SG (1) SG11201706529TA (enExample)
TW (3) TW202400808A (enExample)
WO (1) WO2016127944A1 (enExample)

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20210098492A (ko) * 2019-10-08 2021-08-10 일루미나, 인코포레이티드 클론성 조혈증으로부터의 세포 유리 dna 돌연변이의 단편 크기 특성화
WO2023129983A1 (en) * 2021-12-29 2023-07-06 AiOnco, Inc. Processing encrypted data for artificial intelligence-based analysis
WO2023191197A1 (ko) * 2022-03-29 2023-10-05 주식회사 아이엠비디엑스 암 진단을 위한 다중 분석 예측 모델의 제조 방법

Families Citing this family (76)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101153336B (zh) 2006-09-27 2011-09-07 香港中文大学 检测dna甲基化程度的方法和试剂盒
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
EP4036247B1 (en) 2012-09-04 2024-04-10 Guardant Health, Inc. Methods to detect rare mutations and copy number variation
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
WO2014093330A1 (en) 2012-12-10 2014-06-19 Clearfork Bioscience, Inc. Methods for targeted genomic analysis
SG10201804519RA (en) 2013-12-28 2018-07-30 Guardant Health Inc Methods and systems for detecting genetic variants
TWI895765B (zh) 2014-07-18 2025-09-01 香港中文大學 Dna混合物中之組織甲基化模式分析
KR102696857B1 (ko) 2014-07-25 2024-08-19 유니버시티 오브 워싱톤 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
CA2976303A1 (en) 2015-02-10 2016-08-18 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
HUE057821T2 (hu) 2015-07-23 2022-06-28 Univ Hong Kong Chinese Sejtmentes DNS fragmentációs mintázatának elemzése
CN108431233B (zh) 2015-11-11 2022-04-01 分析生物科学有限公司 Dna文库的高效率构建
CN117174167A (zh) 2015-12-17 2023-12-05 夸登特健康公司 通过分析无细胞dna确定肿瘤基因拷贝数的方法
US11514289B1 (en) 2016-03-09 2022-11-29 Freenome Holdings, Inc. Generating machine learning models using genetic data
EP3427183A1 (en) * 2016-03-10 2019-01-16 Genomic Vision Method of curvilinear signal detection and analysis and associated platform
CN116445593A (zh) 2016-08-10 2023-07-18 格里尔公司 测定一生物样品的一甲基化图谱的方法
AU2017315769B2 (en) 2016-08-25 2024-02-01 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
WO2018064629A1 (en) 2016-09-30 2018-04-05 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
EP3535415A4 (en) 2016-10-24 2020-07-01 The Chinese University of Hong Kong TUMOR DETECTION METHODS AND SYSTEMS
IL315032A (en) 2016-11-30 2024-10-01 Univ Hong Kong Chinese Analysis of cell-free dna in urine and other samples
WO2018119216A1 (en) * 2016-12-21 2018-06-28 The Regents Of The University Of California Deconvolution and detection of rare dna in plasma
CA3051509A1 (en) * 2017-01-25 2018-08-02 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
EP3366780B1 (en) 2017-02-23 2020-05-06 Siemens Healthcare GmbH Single-molecule sequence and high sensitivity methylation analysis for tissue-specific analysis
IT201700045353A1 (it) * 2017-04-26 2018-10-26 Bioscience Services S R L Metodo per la ricerca e l'individuazione di una condizione genetica prodromica all'insorgenza di tumori solidi
CN110914450B (zh) * 2017-05-16 2024-07-02 夸登特健康公司 无细胞dna的体细胞来源或种系来源的鉴定
US10081829B1 (en) 2017-06-13 2018-09-25 Genetics Research, Llc Detection of targeted sequence regions
US10636512B2 (en) 2017-07-14 2020-04-28 Cofactor Genomics, Inc. Immuno-oncology applications using next generation sequencing
EP3431610A1 (en) * 2017-07-19 2019-01-23 Noscendo GmbH Methods and devices for nucleic acid-based real-time determination of disease states
JP7776099B2 (ja) 2017-07-26 2025-11-26 ザ チャイニーズ ユニバーシティー オブ ホンコン 無細胞ウイルス核酸を用いる癌スクリーニングの強化
US20190108311A1 (en) * 2017-10-06 2019-04-11 Grail, Inc. Site-specific noise model for targeted sequencing
EP3704268B1 (en) 2017-11-03 2025-01-22 Guardant Health, Inc. Normalizing tumor mutation burden
JP7299169B2 (ja) * 2017-12-01 2023-06-27 イルミナ インコーポレイテッド 体細胞突然変異のクローン性を決定するための方法及びシステム
MY201935A (en) 2018-01-12 2024-03-25 Grail Inc Methods for analyzing viral nucleic acid
DE202019005627U1 (de) 2018-04-02 2021-05-31 Grail, Inc. Methylierungsmarker und gezielte Methylierungssondenpanels
US20210158895A1 (en) * 2018-04-13 2021-05-27 Dana-Farber Cancer Institute, Inc. Ultra-sensitive detection of cancer by algorithmic analysis
CN112218957B (zh) * 2018-04-16 2025-08-08 格里尔公司 用于确定在无细胞核酸中的肿瘤分数的系统及方法
TW202012639A (zh) * 2018-04-24 2020-04-01 美商格瑞爾公司 使用病原體核酸負荷確定個體是否患有癌症病況的系統及方法
CN108900319B (zh) * 2018-05-30 2021-05-25 北京百度网讯科技有限公司 故障检测方法和装置
CA3107983A1 (en) * 2018-07-23 2020-01-30 Guardant Health, Inc. Methods and systems for adjusting tumor mutational burden by tumor fraction and coverage
WO2020023671A1 (en) * 2018-07-24 2020-01-30 Protocol Intelligence, Inc. Methods and systems for treating cancer and predicting and optimizing treatment outcomes in individual cancer patients
SG11202100570YA (en) 2018-07-26 2021-02-25 Lexent Bio Inc Multiple sequencing using a single flow cell
CN109022619A (zh) * 2018-08-27 2018-12-18 郑州安图生物工程股份有限公司 一种用于检测人类疱疹病毒4型的试剂盒
AU2019351130B2 (en) 2018-09-27 2025-10-23 GRAIL, Inc Methylation markers and targeted methylation probe panel
EP3881323A4 (en) * 2018-11-13 2022-11-16 Myriad Genetics, Inc. METHODS AND SYSTEMS FOR SOMATIC MUTATIONS AND USES THEREOF
TW202536188A (zh) * 2018-12-19 2025-09-16 香港中文大學 游離dna末端特徵
ES3013495T3 (en) 2019-01-31 2025-04-14 Guardant Health Inc Method for isolating and sequencing cell-free dna
CN109841265B (zh) * 2019-02-22 2021-09-21 清华大学 使用片段化模式确定血浆游离核酸分子组织来源的方法和系统及应用
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
US20220243279A1 (en) * 2019-05-20 2022-08-04 Foundation Medicine, Inc. Systems and methods for evaluating tumor fraction
CN112823391B (zh) * 2019-06-03 2024-07-05 Illumina公司 基于检测限的质量控制度量
EP3987522A1 (en) * 2019-06-21 2022-04-27 CooperSurgical, Inc. Systems and methods for using density of single nucleotide variations for the verification of copy number variations in human embryos
WO2021016441A1 (en) * 2019-07-23 2021-01-28 Grail, Inc. Systems and methods for determining tumor fraction
EP4020484A4 (en) * 2019-08-19 2023-08-30 Green Cross Genome Corporation METHOD FOR DETECTING A CHROMOSOME ABNORMALITY USING INFORMATION CONCERNING THE DISTANCE BETWEEN NUCLEIC ACID FRAGMENTS
WO2021137770A1 (en) * 2019-12-30 2021-07-08 Geneton S.R.O. Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants
AU2021205853A1 (en) * 2020-01-08 2023-11-23 Grail, Inc. Biterminal dna fragment types in cell-free samples and uses thereof
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
AU2021395060A1 (en) * 2020-12-08 2023-07-06 Grail, Llc Methods using characteristics of urinary and other dna
CN113628683B (zh) * 2021-08-24 2024-04-09 慧算医疗科技(上海)有限公司 一种高通量测序突变检测方法、设备、装置及可读存储介质
CN114582429B (zh) * 2022-03-03 2023-06-13 四川大学 基于层次注意力神经网络的结核分枝杆菌耐药性预测方法及装置
EP4526481A2 (en) * 2022-05-19 2025-03-26 Personalis, Inc. Methods and system for using methylation data for disease detection and quantification
CN115394358B (zh) * 2022-08-31 2023-05-12 西安理工大学 基于深度学习的单细胞测序基因表达数据插补方法和系统
EP4567818A4 (en) * 2022-09-09 2025-12-17 Nanjing Genscript Biotech Co Ltd METHOD FOR DESIGNING A SEQUENCE OF HUMANIZED ANTIBODY
CN115424666B (zh) * 2022-09-13 2023-07-11 江苏先声医学诊断有限公司 一种基于全基因组重亚硫酸盐测序数据筛选泛癌早筛分子标志物的方法及系统
JP7736308B2 (ja) * 2022-11-18 2025-09-09 株式会社ニューギン 遊技機
JP7736310B2 (ja) * 2022-11-18 2025-09-09 株式会社ニューギン 遊技機
JP7736309B2 (ja) * 2022-11-18 2025-09-09 株式会社ニューギン 遊技機
JP7736307B2 (ja) * 2022-11-18 2025-09-09 株式会社ニューギン 遊技機
EP4649174A2 (en) * 2023-01-09 2025-11-19 ClearNote Health, Inc. 5-hydroxymethylation analysis of buffy coat gdna in cancer detection
WO2025054456A1 (en) * 2023-09-08 2025-03-13 Ellison Institute, Llc Methods of determining variability in molecular alterations

Family Cites Families (50)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2369578A1 (en) 1999-04-02 2000-10-19 Corixa Corporation Compounds and methods for therapy and diagnosis of lung cancer
US20030219765A1 (en) 2000-03-23 2003-11-27 Jose Costa Methods for evaluating cancer risk
US20030211522A1 (en) 2002-01-18 2003-11-13 Landes Gregory M. Methods for fetal DNA detection and allele quantitation
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
EP1599608A4 (en) 2003-03-05 2007-07-18 Genetic Technologies Ltd Identification of fetal DNA and fetal cell marker in maternal plasma or serum
PL201608B1 (pl) 2003-06-13 2009-04-30 Cezary Cybulski Sposób i zestaw do wykrywania wysokiej genetycznie uwarunkowanej predyspozycji do raka prostaty oraz zastosowanie zmiany germinalnej w obrębie genu NBS1
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
WO2005108621A1 (en) 2004-04-30 2005-11-17 Yale University Methods and compositions for cancer diagnosis
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
SI2385143T1 (sl) 2006-02-02 2016-11-30 The Board of Trustees of the Leland Stanford Junior University Office of the General Counsel Neinvazivni genetski presejalni test ploda z digitalno analizo
ATE508209T1 (de) 2006-02-28 2011-05-15 Univ Louisville Res Found Erkennung von chromosomabnormalitäten im fötus mit hilfe der tandem-einzelnukleotid- polymorphismen
WO2008024009A1 (en) 2006-08-15 2008-02-28 Institut Molekulyarnoi Genetiki Rossiiskoi Akademii Nauk (Img Ran) Transcriptional level of a timp3 gene in the form of a diagnosis marker of a non-small cell carcinoma of lung
EP2535425A1 (en) 2007-05-25 2012-12-19 Decode Genetics EHF. Variantes génétiques sur les chr 10q26 utilisées comme marqueurs dans l'évaluation, le diagnostic, le pronostic et le traitement d'un risque de cancer du sein
KR102222378B1 (ko) 2007-07-23 2021-03-04 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
CA2737643C (en) 2008-09-20 2020-10-06 Hei-Mun Fan Noninvasive diagnosis of fetal aneuploidy by sequencing
US20100136560A1 (en) 2008-12-02 2010-06-03 The Johns Hopkins University Integrated Analyses of Breast and Colorectal Cancers
US20120021428A1 (en) 2009-03-31 2012-01-26 Marcus Otte Method for diagnosis of cancer and monitoring of cancer treatments
CA2775671A1 (en) 2009-10-02 2011-04-07 Centre For Addiction And Mental Health Method for analysis of dna methylation profiles of cell-free circulating dna in bodily fluids
WO2011053790A2 (en) 2009-10-30 2011-05-05 Fluidigm Corporation Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis
HUE061110T2 (hu) 2009-11-05 2023-05-28 Univ Hong Kong Chinese Magzati genomelemzés anyai biológiai mintából
WO2011054936A1 (en) 2009-11-06 2011-05-12 The Chinese University Of Hong Kong Size-based genomic analysis
GB0922006D0 (en) 2009-12-17 2010-02-03 Genome Res Ltd Diagnostic
EP2848704B1 (en) 2010-01-19 2018-08-29 Verinata Health, Inc Sequencing methods for prenatal diagnoses
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor biomarkers
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
KR101891847B1 (ko) 2010-11-30 2018-08-24 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
CA2840418C (en) 2011-07-26 2019-10-29 Verinata Health, Inc. Method for determining the presence or absence of different aneuploidies in a sample
WO2013052913A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
WO2013138510A1 (en) 2012-03-13 2013-09-19 Patel Abhijit Ajit Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
KR20150028256A (ko) 2012-05-31 2015-03-13 스미토모 덴키 고교 가부시키가이샤 산화물 초전도 박막과 그의 제조 방법
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
EP4036247B1 (en) * 2012-09-04 2024-04-10 Guardant Health, Inc. Methods to detect rare mutations and copy number variation
US9732390B2 (en) 2012-09-20 2017-08-15 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
LT3354747T (lt) 2012-09-20 2021-04-12 The Chinese University Of Hong Kong Neinvazinis naviko metilomos nustatymas iš plazmos
EP2959016A4 (en) * 2013-02-21 2016-10-12 Toma Biosciences Inc METHOD, COMPOSITIONS AND NUCLEIC ACID ANALYSIS KITS
AU2014233373B2 (en) 2013-03-15 2019-10-24 Verinata Health, Inc. Generating cell-free DNA libraries directly from blood
US10174375B2 (en) * 2013-09-20 2019-01-08 The Chinese University Of Hong Kong Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases
US10262755B2 (en) * 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
US20160002717A1 (en) 2014-07-02 2016-01-07 Boreal Genomics, Inc. Determining mutation burden in circulating cell-free nucleic acid and associated risk of disease
KR102696857B1 (ko) 2014-07-25 2024-08-19 유니버시티 오브 워싱톤 무세포 dna를 생성하는 조직 및/또는 세포 유형을 결정하는 방법 및 이를 사용하여 질환 또는 장애를 확인하는 방법
EP3224380A1 (en) 2014-11-25 2017-10-04 The Broad Institute Inc. Clonal haematopoiesis
AU2015357573B2 (en) 2014-12-05 2022-04-07 Foundation Medicine, Inc. Multigene analysis of tumor samples
GB2552267B (en) 2014-12-31 2020-06-10 Guardant Health Inc Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
CA2976303A1 (en) 2015-02-10 2016-08-18 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
CA2980078C (en) 2015-03-16 2024-03-12 Personal Genome Diagnostics Inc. Systems and methods for analyzing nucleic acid

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20210098492A (ko) * 2019-10-08 2021-08-10 일루미나, 인코포레이티드 클론성 조혈증으로부터의 세포 유리 dna 돌연변이의 단편 크기 특성화
WO2023129983A1 (en) * 2021-12-29 2023-07-06 AiOnco, Inc. Processing encrypted data for artificial intelligence-based analysis
WO2023191197A1 (ko) * 2022-03-29 2023-10-05 주식회사 아이엠비디엑스 암 진단을 위한 다중 분석 예측 모델의 제조 방법

Also Published As

Publication number Publication date
AU2016218631A1 (en) 2017-08-17
TWI740817B (zh) 2021-10-01
JP2018512048A (ja) 2018-05-10
TW202146657A (zh) 2021-12-16
US20220127683A1 (en) 2022-04-28
SG11201706529TA (en) 2017-09-28
EP3256605B1 (en) 2022-02-09
TW201700732A (zh) 2017-01-01
US20170073774A1 (en) 2017-03-16
EP4012715B1 (en) 2025-09-24
JP2021061861A (ja) 2021-04-22
HK1251018A1 (zh) 2019-01-18
ES2908347T3 (es) 2022-04-28
CN107771221B (zh) 2021-11-02
JP2022185149A (ja) 2022-12-13
EP4012715A1 (en) 2022-06-15
CA2976303A1 (en) 2016-08-18
US20190153541A1 (en) 2019-05-23
TWI817187B (zh) 2023-10-01
JP7168247B2 (ja) 2022-11-09
US11168370B2 (en) 2021-11-09
CN107771221A (zh) 2018-03-06
WO2016127944A1 (en) 2016-08-18
HK1244515A1 (zh) 2018-08-10
US10240209B2 (en) 2019-03-26
AU2022203114A1 (en) 2022-05-26
EP3256605A4 (en) 2018-10-17
HUE058263T2 (hu) 2022-07-28
DK3256605T3 (da) 2022-03-14
CN113957124A (zh) 2022-01-21
EP3256605A1 (en) 2017-12-20
TW202400808A (zh) 2024-01-01
AU2016218631B2 (en) 2022-03-10
PT3256605T (pt) 2022-03-17
JP6829211B2 (ja) 2021-02-10

Similar Documents

Publication Publication Date Title
JP7168247B2 (ja) 癌スクリーニング及び胎児分析のための変異検出
TWI640634B (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
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
JP6971845B2 (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
TWI798718B (zh) Dna混合物中組織之單倍型甲基化模式分析
CN114072527B (zh) 确定循环核酸的线性和环状形式
CN110100013A (zh) 用于肿瘤检测的方法和系统
CN108026572A (zh) 游离dna的片段化模式的分析
HK40076095A (en) Detecting mutations for cancer screening and fetal analysis
KR20250158790A (ko) 멀티플렉스 샘플 시퀀싱에서의 샘플 바코드
HK40082326A (en) Methylation pattern analysis of haplotypes in tissues in dna mixture
HK1244515B (en) Detecting mutations for cancer screening and fetal analysis
HK1251018B (zh) 用於癌症筛查和胎儿分析的突变检测

Legal Events

Date Code Title Description
PA0105 International application

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

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

PG1501 Laying open of application

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

P22-X000 Classification modified

St.27 status event code: A-2-2-P10-P22-nap-X000

P22-X000 Classification modified

St.27 status event code: A-2-2-P10-P22-nap-X000

P22-X000 Classification modified

St.27 status event code: A-2-2-P10-P22-nap-X000

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

P22-X000 Classification modified

St.27 status event code: A-2-2-P10-P22-nap-X000

R18-X000 Changes to party contact information recorded

St.27 status event code: A-3-3-R10-R18-oth-X000

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

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

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-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

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

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

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

P11-X000 Amendment of application requested

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

PE0701 Decision of registration

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