TWI532843B - 與癌症有關之基因或分子變異之檢測 - Google Patents

與癌症有關之基因或分子變異之檢測 Download PDF

Info

Publication number
TWI532843B
TWI532843B TW100144098A TW100144098A TWI532843B TW I532843 B TWI532843 B TW I532843B TW 100144098 A TW100144098 A TW 100144098A TW 100144098 A TW100144098 A TW 100144098A TW I532843 B TWI532843 B TW I532843B
Authority
TW
Taiwan
Prior art keywords
nucleic acid
value
chromosomal
cancer
region
Prior art date
Application number
TW100144098A
Other languages
English (en)
Chinese (zh)
Other versions
TW201307570A (zh
Inventor
盧煜明
陳君賜
趙慧君
江培勇
Original Assignee
香港中文大學
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=46171096&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=TWI532843(B) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by 香港中文大學 filed Critical 香港中文大學
Publication of TW201307570A publication Critical patent/TW201307570A/zh
Application granted granted Critical
Publication of TWI532843B publication Critical patent/TWI532843B/zh

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • 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
    • 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
    • C12Q1/6809Methods for determination or identification of nucleic acids involving differential detection
    • 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
    • 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
    • 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
    • G16B20/10Ploidy or copy number 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
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive parallel sequencing
    • 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
    • C12Q2537/00Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/165Mathematical modelling, e.g. logarithm, ratio
    • 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
    • C12Q2545/00Reactions characterised by their quantitative nature
    • C12Q2545/10Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
    • 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
    • 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
    • C12Q2600/172Haplotypes

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)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Polysaccharides And Polysaccharide Derivatives (AREA)
TW100144098A 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測 TWI532843B (zh)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US41839110P 2010-11-30 2010-11-30
US201161529877P 2011-08-31 2011-08-31

Publications (2)

Publication Number Publication Date
TW201307570A TW201307570A (zh) 2013-02-16
TWI532843B true TWI532843B (zh) 2016-05-11

Family

ID=46171096

Family Applications (5)

Application Number Title Priority Date Filing Date
TW100144098A TWI532843B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW105102252A TWI642786B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW111126139A TW202242133A (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW107129009A TWI719339B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW110101988A TWI786520B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測

Family Applications After (4)

Application Number Title Priority Date Filing Date
TW105102252A TWI642786B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW111126139A TW202242133A (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW107129009A TWI719339B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測
TW110101988A TWI786520B (zh) 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測

Country Status (18)

Country Link
US (4) US8741811B2 (enExample)
EP (4) EP2646579B1 (enExample)
JP (5) JP6196157B2 (enExample)
KR (6) KR102333664B1 (enExample)
CN (4) CN108899091B (enExample)
AU (1) AU2011335891B2 (enExample)
BR (1) BR112013013421A2 (enExample)
CA (1) CA2817370C (enExample)
DK (2) DK2646579T3 (enExample)
EA (1) EA038374B1 (enExample)
IL (3) IL226272A (enExample)
MX (3) MX349568B (enExample)
MY (1) MY169852A (enExample)
NZ (1) NZ611599A (enExample)
SG (3) SG190344A1 (enExample)
TW (5) TWI532843B (enExample)
WO (1) WO2012071621A1 (enExample)
ZA (1) ZA201304625B (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TWI669618B (zh) * 2017-11-24 2019-08-21 南韓商韓國美迪基因科技有限公司 預測疾病的方法及裝置以及計算每種疾病發生風險的加權分數的方法

Families Citing this family (153)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
KR102561664B1 (ko) 2007-07-23 2023-07-28 더 차이니즈 유니버시티 오브 홍콩 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법
AU2009279734A1 (en) 2008-08-04 2010-02-11 Natera, Inc. Methods for allele calling and ploidy calling
CN102597266A (zh) 2009-09-30 2012-07-18 纳特拉公司 无创性产前倍性调用的方法
PL2366031T3 (pl) 2010-01-19 2015-08-31 Verinata Health Inc Metody sekwencjonowania w diagnostyce prenatalnej
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US8825412B2 (en) 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
EP2646579B1 (en) 2010-11-30 2017-06-14 The Chinese University Of Hong Kong Detection of genetic or molecular aberrations associated with cancer
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
EP2673380B1 (en) * 2011-02-09 2018-12-12 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
ES2806728T3 (es) 2011-04-12 2021-02-18 Verinata Health Inc Resolución de fracciones de genoma usando recuentos de polimorfismos
PL3246416T3 (pl) 2011-04-15 2024-09-30 The Johns Hopkins University Bezpieczny system sekwencjonowania
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
CA2867293C (en) 2012-03-13 2020-09-01 Abhijit Ajit PATEL Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
EP2877594B1 (en) * 2012-07-20 2019-12-04 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
SG10202000486VA (en) 2012-09-04 2020-03-30 Guardant Health Inc Systems and 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
US20160040229A1 (en) * 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and 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
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
EP2898100B9 (en) 2012-09-20 2023-08-02 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2889937C (en) 2012-10-29 2020-12-29 The Johns Hopkins University Papanicolaou test for ovarian and endometrial cancers
EP3561072A1 (en) 2012-12-10 2019-10-30 Resolution Bioscience, Inc. Methods for targeted genomic analysis
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
EP4253558B1 (en) * 2013-03-15 2025-07-02 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
CN112575075B (zh) 2013-05-24 2025-09-16 塞昆纳姆股份有限公司 遗传变异的非侵入性评估方法和过程
WO2015013681A1 (en) 2013-07-25 2015-01-29 Bio-Rad Laboratories, Inc. Genetic assays
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
US10851414B2 (en) * 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
SG10201804519RA (en) 2013-12-28 2018-07-30 Guardant Health Inc Methods and systems for detecting genetic variants
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2015164432A1 (en) * 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ, インコーポレイテッド 変異の検出および染色体分節の倍数性
AU2015266665C1 (en) 2014-05-30 2021-12-23 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
HUE056267T2 (hu) 2014-07-18 2022-02-28 Univ Hong Kong Chinese DNS-keverékek szöveteinek metilációs mintázatelemzése
JP2017522908A (ja) 2014-07-25 2017-08-17 ユニヴァーシティ オブ ワシントン セルフリーdnaを生じる組織及び/又は細胞タイプを決定する方法、並びにそれを用いて疾患又は異常を識別する方法
EP3760739B1 (en) * 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20160048608A1 (en) 2014-08-15 2016-02-18 Good Start Genetics, Inc. Systems and methods for genetic analysis
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
EP3230469B1 (en) 2014-12-12 2019-04-03 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US11242559B2 (en) 2015-01-13 2022-02-08 The Chinese University Of Hong Kong Method of nuclear DNA and mitochondrial DNA analysis
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
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
DK3256605T3 (da) 2015-02-10 2022-03-14 Univ Hong Kong Chinese Påvisning af mutationer til cancerscreening og føtal analyse
US10424396B2 (en) * 2015-03-27 2019-09-24 Sentieon Inc. Computation pipeline of location-dependent variant calls
SG11201708301TA (en) * 2015-04-10 2017-11-29 Social Welfare Organization Saiseikai Imp Gift Foundation Inc Method for discriminating symptom of hepatic disease
EP4428863A3 (en) 2015-05-11 2024-12-11 Natera, Inc. Methods and compositions for determining ploidy
EP3739061B1 (en) 2015-07-20 2022-03-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
ES2960201T3 (es) 2015-07-23 2024-03-01 Univ Hong Kong Chinese Análisis de los patrones de fragmentación del ADN acelular
JP6675164B2 (ja) * 2015-07-28 2020-04-01 株式会社理研ジェネシス 変異判定方法、変異判定プログラムおよび記録媒体
US11286531B2 (en) 2015-08-11 2022-03-29 The Johns Hopkins University Assaying ovarian cyst fluid
MY188348A (en) 2015-08-12 2021-12-02 Univ Hong Kong Chinese Single-molecule sequencing of plasma dna
CA3004435A1 (en) 2015-11-11 2017-05-18 Resolution Bioscience, Inc. High efficiency construction of dna libraries
WO2017106768A1 (en) 2015-12-17 2017-06-22 Guardant Health, Inc. Methods to determine tumor gene copy number by analysis of cell-free dna
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
AU2017237187B2 (en) 2016-03-24 2022-12-08 Xzom, Inc. Disposable fluidic cartridge and components
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
IL303115B2 (en) 2016-05-30 2025-09-01 Univ Hong Kong Chinese Detection of hematological disorders using cell-free DNA in blood
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
SG11201901371XA (en) 2016-08-25 2019-03-28 Resolution Bioscience Inc Methods for the detection of genomic copy changes in dna samples
CA3037366A1 (en) * 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
CA3041647A1 (en) 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Methods and systems for tumor detection
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
JP2020503003A (ja) 2016-11-30 2020-01-30 ザ チャイニーズ ユニバーシティ オブ ホンコン 尿および他のサンプルにおける無細胞dnaの分析
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
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
US10633713B2 (en) 2017-01-25 2020-04-28 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
AU2018225348A1 (en) 2017-02-21 2019-07-18 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
IL269202B2 (en) 2017-03-17 2025-08-01 Sequenom Inc Methods and processes for assessment of genetic mosaicism
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CA3062585A1 (en) 2017-05-08 2018-11-15 Biological Dynamics, Inc. Methods and systems for analyte information processing
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
SG11201911642SA (en) * 2017-06-08 2020-01-30 Nantomics Llc An integrative panomic approach to pharmacogenomics screening
DK3658684T3 (da) 2017-07-26 2023-10-09 Univ Hong Kong Chinese Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer
WO2019067092A1 (en) 2017-08-07 2019-04-04 The Johns Hopkins University METHODS AND SUBSTANCES FOR THE EVALUATION AND TREATMENT OF CANCER
CN110021355B (zh) * 2017-09-22 2021-05-04 深圳华大生命科学研究院 二倍体基因组测序片段的单倍体分型和变异检测方法和装置
US11168356B2 (en) 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
CA3085933A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
JP2021509266A (ja) * 2017-12-19 2021-03-25 バイオロジカル ダイナミクス,インク. 無細胞dna断片を検出および定量化するための方法とデバイス
AU2018388641B2 (en) 2017-12-19 2023-09-07 Xzom, Inc. Methods and devices for detection of multiple analytes from a biological sample
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
TW202434742A (zh) 2018-03-13 2024-09-01 美商格瑞爾有限責任公司 異常片段偵測及分類
CA3093971A1 (en) 2018-03-15 2019-09-19 Grail, Inc. Tissue-specific methylation marker
US12154661B2 (en) * 2018-03-22 2024-11-26 The Regents Of The University Of Michigan Method and apparatus for analysis of chromatin interaction data
CN117065932A (zh) 2018-04-02 2023-11-17 生物动力学公司 介电材料
EP3776555A2 (en) 2018-04-13 2021-02-17 Grail, Inc. Multi-assay prediction model for cancer detection
AU2019251504B2 (en) 2018-04-14 2025-09-25 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor DNA
EP3788172B1 (en) 2018-05-03 2025-04-02 The Chinese University Of Hong Kong Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures
EP3801623A4 (en) 2018-06-01 2022-03-23 Grail, LLC Convolutional neural network systems and methods for data classification
TW202013385A (zh) 2018-06-07 2020-04-01 美商河谷控股Ip有限責任公司 基於差異的基因組之辨識分數
CN112739828B (zh) * 2018-06-11 2024-04-09 深圳华大生命科学研究院 确定待测样本类型的方法及系统
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
AU2019356497B2 (en) * 2018-10-08 2025-06-26 Freenome Holdings, Inc. Transcription factor profiling
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
KR20210113237A (ko) 2018-12-19 2021-09-15 더 차이니즈 유니버시티 오브 홍콩 무 세포 dna 말단 특성
US12234514B2 (en) 2018-12-21 2025-02-25 Grail, Inc. Source of origin deconvolution based on methylation fragments in cell-free DNA samples
WO2020127629A1 (en) * 2018-12-21 2020-06-25 F. Hoffmann-La Roche Ag Identification of global sequence features in whole genome sequence data from circulating nucelic acid
US11929148B2 (en) 2019-03-13 2024-03-12 Grail, Llc Systems and methods for enriching for cancer-derived fragments using fragment size
US12098429B2 (en) 2019-03-25 2024-09-24 The Chinese University Of Hong Kong Determining linear and circular forms of circulating nucleic acids
CA3128379A1 (en) * 2019-04-02 2020-10-08 Grail, Inc. Stratification of risk of virus associated cancers
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
JP7518097B2 (ja) * 2019-05-10 2024-07-17 バイエル・コシューマー・ケア・アクチェンゲゼルシャフト Ntrkの発癌性融合を示す候補となる徴候の識別
EP3980559A1 (en) 2019-06-06 2022-04-13 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
CN110825819A (zh) * 2019-09-24 2020-02-21 昆明理工大学 一种处理有缺失值和不平衡非小细胞肺癌数据的二分类方法
CA3158101A1 (en) 2019-11-27 2021-06-03 M. Cyrus MAHER Systems and methods for evaluating longitudinal biological feature data
US20220073977A1 (en) 2020-02-14 2022-03-10 The Johns Hopkins University Methods and materials for assessing nucleic acids
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
CN114093417B (zh) * 2021-11-23 2022-10-04 深圳吉因加信息科技有限公司 一种鉴定染色体臂杂合性缺失的方法和装置
CN115220623B (zh) * 2021-12-17 2023-12-05 深圳市瑞图生物技术有限公司 染色体图像分析方法、设备及存储介质
JP2025506435A (ja) 2022-02-07 2025-03-11 センター フォー ノヴォスティクス メチル化及び疾患を測定するための断片化
CN114525341A (zh) * 2022-02-24 2022-05-24 苏州宏元生物科技有限公司 一种同时检测肺癌和肺部感染的试剂盒
US20250382674A1 (en) 2022-06-29 2025-12-18 Raman Govindarajan Method for detecting cancer susceptibility, early detection and predicting cancer behaviour
CN114898802B (zh) * 2022-07-14 2022-09-30 臻和(北京)生物科技有限公司 基于血浆游离dna甲基化测序数据的末端序列频率分布特征确定方法、评价方法及装置
EP4634407A1 (en) * 2022-12-12 2025-10-22 Flagship Pioneering Innovations VI, LLC Phased sequencing information from circulating tumor dna
WO2024203348A1 (ja) * 2023-03-31 2024-10-03 ソニーグループ株式会社 腫瘍の解析方法、腫瘍の解析システム、及び腫瘍の解析データ生成方法

Family Cites Families (33)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0669990A1 (en) * 1992-11-13 1995-09-06 California Institute Of Biological Research Identification of neoplasms by detection of genetic insertions and deletions
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
EP0956365A4 (en) * 1996-08-28 2004-08-25 Univ Johns Hopkins Med METHOD FOR DETECTING CELL PROLIFERATIVE DEREGULATIONS
EP1158055A1 (fr) 2000-05-26 2001-11-28 Xu Qi University of Teaxs Laboratoire de Leucémie Chen Méthode pour le diagnostic de cancers
US20030219802A1 (en) * 2002-03-08 2003-11-27 The Regents Of The University Of Michigan Diagnosis and treatment of osteosarcoma
AU2003291481A1 (en) * 2002-11-11 2004-06-03 Affymetrix, Inc. Methods for identifying dna copy number changes
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
CA2544178A1 (en) 2003-10-30 2005-05-19 Tufts-New England Medical Center Prenatal diagnosis using cell-free fetal dna in amniotic fluid
EP1531183A1 (en) 2003-11-14 2005-05-18 bioMérieux BV Method for amplification of RNA sequences
JP2006094760A (ja) * 2004-09-29 2006-04-13 Canon Inc 細胞のスクリーニング方法および口腔癌細胞検出方法
DE602005009324D1 (de) 2005-04-06 2008-10-09 Maurice Stroun Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf
CA2633339C (en) * 2005-12-14 2019-03-19 Cold Spring Harbor Laboratory Methods for assessing probabilistic measures of clinical outcome using genomic profiling
EP1974056A2 (en) * 2005-12-14 2008-10-01 Michael H. Wigler Use of roma for characterizing genomic rearrangements
FI20061136A0 (fi) * 2006-12-19 2006-12-19 Sakari Knuutila Seulontamenetelmä
CN100533120C (zh) * 2007-03-24 2009-08-26 辽宁师范大学 多色荧光复合扩增11个肺癌易感性相关snp位点试剂盒
WO2008156827A2 (en) * 2007-06-20 2008-12-24 Government Of The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Molecular grading methods for ductal carcinoma in situ
US12180549B2 (en) * 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
KR102561664B1 (ko) 2007-07-23 2023-07-28 더 차이니즈 유니버시티 오브 홍콩 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법
US8093063B2 (en) 2007-11-29 2012-01-10 Quest Diagnostics Investments Incorporated Assay for detecting genetic abnormalities in genomic nucleic acids
US20100041048A1 (en) * 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
GB2483810B (en) * 2008-11-07 2012-09-05 Sequenta Inc Methods for correlating clonotypes with diseases in a population
US20100136560A1 (en) 2008-12-02 2010-06-03 The Johns Hopkins University Integrated Analyses of Breast and Colorectal Cancers
WO2010070366A1 (en) * 2008-12-15 2010-06-24 Debreceni Egyetem Cytometric method for the comparative analysis of the length of pcr products and uses of this method
CN104531837A (zh) 2008-12-22 2015-04-22 赛卢拉有限公司 检测等位基因、基因组和转录物组的方法和基因型分析谱
LT3783110T (lt) 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
US8620593B2 (en) 2009-11-06 2013-12-31 The Chinese University Of Hong Kong Size-based genomic analysis
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
PL2366031T3 (pl) 2010-01-19 2015-08-31 Verinata Health Inc Metody sekwencjonowania w diagnostyce prenatalnej
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor biomarkers
EP2558854B1 (en) * 2010-04-16 2018-10-10 Chronix Biomedical Breast cancer associated circulating nucleic acid biomarkers
CA2797645C (en) * 2010-05-25 2020-09-22 The Regents Of The University Of California Bambam: parallel comparative analysis of high-throughput sequencing data
US20120034603A1 (en) * 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
EP2646579B1 (en) 2010-11-30 2017-06-14 The Chinese University Of Hong Kong Detection of genetic or molecular aberrations associated with cancer

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TWI669618B (zh) * 2017-11-24 2019-08-21 南韓商韓國美迪基因科技有限公司 預測疾病的方法及裝置以及計算每種疾病發生風險的加權分數的方法

Also Published As

Publication number Publication date
US20170220736A1 (en) 2017-08-03
IL226272A (en) 2016-02-29
US20140227699A1 (en) 2014-08-14
KR102333664B1 (ko) 2021-12-01
CA2817370A1 (en) 2012-06-07
SG10202008532PA (en) 2020-10-29
TW202242133A (zh) 2022-11-01
TWI786520B (zh) 2022-12-11
KR20140091650A (ko) 2014-07-22
EP3640346A1 (en) 2020-04-22
KR20180095941A (ko) 2018-08-28
CN105243295B (zh) 2018-08-17
JP7351537B2 (ja) 2023-09-27
EP2646579A4 (en) 2014-06-04
JP2019146561A (ja) 2019-09-05
EP3243910B1 (en) 2019-12-25
TWI719339B (zh) 2021-02-21
MX370249B (es) 2019-12-06
JP2023179458A (ja) 2023-12-19
US8741811B2 (en) 2014-06-03
KR20200133825A (ko) 2020-11-30
WO2012071621A1 (en) 2012-06-07
KR102040307B1 (ko) 2019-11-27
KR20190125535A (ko) 2019-11-06
EP4269623A3 (en) 2024-03-06
AU2011335891A1 (en) 2013-05-02
TW201615841A (zh) 2016-05-01
KR102489749B1 (ko) 2023-01-17
DK2646579T3 (en) 2017-08-07
US9965585B2 (en) 2018-05-08
JP2022000021A (ja) 2022-01-04
EP4269623A2 (en) 2023-11-01
MX2013006075A (es) 2013-07-02
HK1190437A1 (zh) 2014-07-04
JP6196157B2 (ja) 2017-09-20
DK3243910T3 (da) 2020-02-24
TWI642786B (zh) 2018-12-01
KR102723107B1 (ko) 2024-10-28
NZ611599A (en) 2015-05-29
KR20230014851A (ko) 2023-01-30
EP2646579B1 (en) 2017-06-14
IL250931A0 (en) 2017-04-30
EP3243910A1 (en) 2017-11-15
EA038374B1 (ru) 2021-08-17
HK1217553A1 (zh) 2017-01-13
MX349568B (es) 2017-08-03
BR112013013421A2 (pt) 2016-09-06
MY169852A (en) 2019-05-17
IL243823A0 (en) 2016-04-21
CN108899091A (zh) 2018-11-27
CN114678128A (zh) 2022-06-28
TW201307570A (zh) 2013-02-16
KR102185244B1 (ko) 2020-12-02
US12002544B2 (en) 2024-06-04
US20250006299A1 (en) 2025-01-02
US20130040824A1 (en) 2013-02-14
CN103403182A (zh) 2013-11-20
JP6931013B2 (ja) 2021-09-01
JP2018019696A (ja) 2018-02-08
JP6487504B2 (ja) 2019-03-20
EA201300649A1 (ru) 2013-10-30
CN103403182B (zh) 2015-11-25
KR20210148410A (ko) 2021-12-07
KR101891847B1 (ko) 2018-08-24
ZA201304625B (en) 2016-09-28
TW202132572A (zh) 2021-09-01
TW201920685A (zh) 2019-06-01
EP2646579A1 (en) 2013-10-09
AU2011335891B2 (en) 2015-03-26
MX2019014657A (es) 2020-02-07
JP2014502155A (ja) 2014-01-30
SG10201509766YA (en) 2015-12-30
CN108899091B (zh) 2022-04-15
IL243823A (en) 2017-03-30
SG190344A1 (en) 2013-06-28
CA2817370C (en) 2022-02-01
CN105243295A (zh) 2016-01-13
IL226272A0 (en) 2013-07-31

Similar Documents

Publication Publication Date Title
TWI532843B (zh) 與癌症有關之基因或分子變異之檢測
AU2022202130A1 (en) Detection of genetic or molecular aberrations associated with cancer
HK40074975A (en) Detection of genetic or molecular aberrations associated with cancer
HK1260290B (en) Detection of genetic or molecular aberrations associated with cancer
HK1260290A1 (en) Detection of genetic or molecular aberrations associated with cancer
HK1217553B (en) Detection of genetic or molecular aberrations associated with cancer
HK1240278B (en) Determination of progress of chromosomal aberrations in an organism
HK1240278A1 (en) Determination of progress of chromosomal aberrations in an organism
HK1190435B (en) Detection of genetic or molecular aberrations associated with cancer
HK1190435A (en) Detection of genetic or molecular aberrations associated with cancer