TW202242133A - 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
TW202242133A
TW202242133A TW111126139A TW111126139A TW202242133A TW 202242133 A TW202242133 A TW 202242133A TW 111126139 A TW111126139 A TW 111126139A TW 111126139 A TW111126139 A TW 111126139A TW 202242133 A TW202242133 A TW 202242133A
Authority
TW
Taiwan
Prior art keywords
regions
chromosomal
tumor
dna
nucleic acid
Prior art date
Application number
TW111126139A
Other languages
English (en)
Chinese (zh)
Inventor
煜明 盧
君賜 陳
慧君 趙
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=TW202242133(A) "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 TW202242133A publication Critical patent/TW202242133A/zh

Links

Images

Classifications

    • 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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • 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
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel sequencing
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114—Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
    • 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
    • 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
    • C12Q2600/172—Haplotypes

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)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Polysaccharides And Polysaccharide Derivatives (AREA)
TW111126139A 2010-11-30 2011-11-30 與癌症有關之基因或分子變異之檢測 TW202242133A (zh)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US41839110P 2010-11-30 2010-11-30
US61/418,391 2010-11-30
US201161529877P 2011-08-31 2011-08-31
US61/529,877 2011-08-31

Publications (1)

Publication Number Publication Date
TW202242133A true TW202242133A (zh) 2022-11-01

Family

ID=46171096

Family Applications (5)

Application Number Title Priority Date Filing Date
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
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
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
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
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

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
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
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
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

Country Status (18)

Country Link
US (4) US8741811B2 (enExample)
EP (4) EP2646579B1 (enExample)
JP (5) JP6196157B2 (enExample)
KR (6) KR102040307B1 (enExample)
CN (4) CN103403182B (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) MX370249B (enExample)
MY (1) MY169852A (enExample)
NZ (1) NZ611599A (enExample)
SG (3) SG10201509766YA (enExample)
TW (5) TW202242133A (enExample)
WO (1) WO2012071621A1 (enExample)
ZA (1) ZA201304625B (enExample)

Families Citing this family (154)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (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
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
EP3892736A1 (en) 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
CN104732118B (zh) 2008-08-04 2017-08-22 纳特拉公司 等位基因调用和倍性调用的方法
ES2640776T3 (es) 2009-09-30 2017-11-06 Natera, Inc. Métodos para denominar de forma no invasiva ploidía prenatal
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US11322224B2 (en) 2010-05-18 2022-05-03 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
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
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 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
US9677118B2 (en) 2014-04-21 2017-06-13 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
US8825412B2 (en) 2010-05-18 2014-09-02 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
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
KR102040307B1 (ko) 2010-11-30 2019-11-27 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
RU2620959C2 (ru) 2010-12-22 2017-05-30 Натера, Инк. Способы неинвазивного пренатального установления отцовства
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
EP3483285B1 (en) 2011-02-09 2021-07-14 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
HUE041411T2 (hu) 2011-04-12 2019-05-28 Verinata Health Inc Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
EP2697397B1 (en) 2011-04-15 2017-04-05 The Johns Hopkins University Safe sequencing system
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
CA2878246C (en) * 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US10876152B2 (en) 2012-09-04 2020-12-29 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
KR102393608B1 (ko) 2012-09-04 2022-05-03 가던트 헬쓰, 인크. 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법
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
ES2665273T5 (es) 2012-09-20 2023-10-02 Univ Hong Kong Chinese Determinación no invasiva de metiloma del feto o tumor de plasma
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014070462A1 (en) 2012-10-29 2014-05-08 The Johns Hopkins University Papanicolaou test for ovarian and endometrial cancers
WO2014093330A1 (en) 2012-12-10 2014-06-19 Clearfork 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
EP3421613B1 (en) 2013-03-15 2020-08-19 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN105555972B (zh) 2013-07-25 2020-07-31 伯乐生命医学产品有限公司 遗传测定
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
SG11201604923XA (en) 2013-12-28 2016-07-28 Guardant Health Inc Methods and systems for detecting genetic variants
EP3736344A1 (en) 2014-03-13 2020-11-11 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
CA2945962C (en) 2014-04-21 2023-08-29 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
IL249095B2 (en) 2014-05-30 2023-10-01 Verinata Health Inc Detection of subchromosomal aneuploidy in the fetus and variations in the number of copies
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
TWI813141B (zh) * 2014-07-18 2023-08-21 香港中文大學 Ｄｎａ混合物中之組織甲基化模式分析
CN107002122B (zh) 2014-07-25 2023-09-19 华盛顿大学 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法
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
WO2016094853A1 (en) 2014-12-12 2016-06-16 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
CA2976303A1 (en) 2015-02-10 2016-08-18 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
CN106021992A (zh) * 2015-03-27 2016-10-12 知源生信公司（美国硅谷） 位置相关变体识别计算流水线
SG11201708301TA (en) * 2015-04-10 2017-11-29 Social Welfare Organization Saiseikai Imp Gift Foundation Inc Method for discriminating symptom of hepatic disease
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
EP3325663B1 (en) * 2015-07-20 2020-08-19 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
EP3325664B1 (en) 2015-07-23 2021-12-29 The Chinese University Of Hong Kong Analysis of fragmentation patterns of cell-free dna
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
HK1248286A1 (zh) 2015-08-12 2018-10-12 The Chinese University Of Hong Kong 血浆dna的单分子测序
WO2017083562A1 (en) 2015-11-11 2017-05-18 Resolution Bioscience, Inc. High efficiency construction of dna libraries
CN108603228B (zh) 2015-12-17 2023-09-01 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
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CA3018900A1 (en) 2016-03-24 2017-09-28 Biological Dynamics, Inc. Disposable fluidic cartridge and components
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
CN115161390B (zh) 2016-05-30 2025-12-05 香港中文大学 使用血液中的无细胞dna检测血液病症
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
CA3034649A1 (en) 2016-08-25 2018-03-01 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
SG11201903509QA (en) 2016-10-24 2019-05-30 Univ Hong Kong Chinese Methods and systems for tumor detection
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
IL315032A (en) * 2016-11-30 2024-10-01 Univ Hong Kong Chinese Analysis of cell-free dna in urine and other samples
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
MY197535A (en) 2017-01-25 2023-06-21 Univ Hong Kong Chinese Diagnostic applications using nucleic acid fragments
EP3585889A1 (en) 2017-02-21 2020-01-01 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
WO2018170511A1 (en) 2017-03-17 2018-09-20 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
WO2018208820A1 (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
US20180357368A1 (en) * 2017-06-08 2018-12-13 Nantomics, Llc Integrative panomic approach to pharmacogenomics screening
ES2959360T3 (es) 2017-07-26 2024-02-23 Univ Hong Kong Chinese Mejora del cribado del cáncer mediante ácidos nucleicos víricos acelulares
IL319255A (en) 2017-08-07 2025-04-01 Univ Johns Hopkins Methods and materials for cancer assessment and treatment
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
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
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
WO2019126388A1 (en) 2017-12-19 2019-06-27 Biological Dynamics, 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
CN111989407B (zh) 2018-03-13 2024-10-29 格里尔公司 异常的片段检测及分类
SG11202008957VA (en) 2018-03-15 2020-10-29 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
WO2019195196A1 (en) 2018-04-02 2019-10-10 Biological Dynamics, Inc. Dielectric materials
AU2019253112A1 (en) 2018-04-13 2020-10-29 Grail, Llc Multi-assay prediction model for cancer detection
US12024738B2 (en) 2018-04-14 2024-07-02 Natera, Inc. Methods for cancer detection and monitoring
AU2019263869B2 (en) 2018-05-03 2025-12-18 Grail, Inc. Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures
AU2019277698A1 (en) 2018-06-01 2020-11-19 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
SG11202100960RA (en) * 2018-10-08 2021-02-25 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
DK3899018T3 (da) 2018-12-19 2024-01-08 Univ Hong Kong Chinese Cellefri DNA-endeegenskaber
CN113195741A (zh) * 2018-12-21 2021-07-30 豪夫迈·罗氏有限公司 从循环核酸中鉴定全基因组序列数据中的全局序列特征
WO2020132572A1 (en) 2018-12-21 2020-06-25 Grail, Inc. Source of origin deconvolution based on methylation fragments in cell-free-dna samples
US11929148B2 (en) 2019-03-13 2024-03-12 Grail, Llc Systems and methods for enriching for cancer-derived fragments using fragment size
CN114072527B (zh) 2019-03-25 2025-03-04 香港中文大学 确定循环核酸的线性和环状形式
US20200318190A1 (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
EP3966830A1 (en) * 2019-05-10 2022-03-16 Bayer Consumer Care AG Identification of candidate signs indicative of an ntrk oncogenic fusion
WO2020247263A1 (en) 2019-06-06 2020-12-10 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
CN115836349A (zh) 2019-11-27 2023-03-21 格里尔公司 用于评估纵向生物特征数据的系统和方法
WO2021163546A1 (en) 2020-02-14 2021-08-19 The Johns Hopkins University Methods and materials for assessing nucleic acids
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
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding 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
IL314466A (en) 2022-02-07 2024-09-01 Centre For Novostics Fragmentation for measuring methylation and disease
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
WO2024003936A1 (en) 2022-06-29 2024-01-04 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
WO2024129712A1 (en) * 2022-12-12 2024-06-20 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
JPH08503367A (ja) * 1992-11-13 1996-04-16 カリフォルニア インスティテュート オブ バイオロジカル リサーチ 遺伝子の挿入及び欠失の検出による新生物の同定
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
CA2410120A1 (en) * 1996-08-28 1998-03-05 The Johns Hopkins University School Of Medicine Method for detecting cell proliferative disorders
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
JP2006519977A (ja) * 2002-11-11 2006-08-31 アフィメトリックス インコーポレイテッド Ｄｎａコピー数変化を同定するための方法
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
AU2004286845A1 (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
EP1712639B1 (en) 2005-04-06 2008-08-27 Maurice Stroun Method for the diagnosis of cancer by detecting circulating DNA and RNA
US20070207481A1 (en) * 2005-12-14 2007-09-06 Michael Wigler Use of roma for characterizing genomic rearrangements
DK3091462T3 (da) * 2005-12-14 2020-08-31 Cold Spring Harbor Laboratory Fremgangsmåder til evaluering af probabilistiske målinger af klinisk resultat ved anvendelse af genomisk profilering
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
EP3892736A1 (en) 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
US12180549B2 (en) * 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
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
EP4335932A3 (en) * 2008-11-07 2024-06-26 Adaptive Biotechnologies Corporation Methods of monitoring conditions by sequence analysis
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
MY161966A (en) * 2008-12-22 2017-05-15 Celula Inc Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
CN102770558B (zh) 2009-11-05 2016-04-06 香港中文大学 由母本生物样品进行胎儿基因组的分析
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
EP2536854B1 (en) 2010-02-18 2017-07-19 The Johns Hopkins University Personalized tumor biomarkers
US10047397B2 (en) * 2010-04-16 2018-08-14 Chronix Biomedical Breast cancer associated circulating nucleic acid biomarkers
EP2577538A1 (en) * 2010-05-25 2013-04-10 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
KR102040307B1 (ko) 2010-11-30 2019-11-27 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출

Also Published As

Publication number Publication date
CA2817370C (en) 2022-02-01
KR20140091650A (ko) 2014-07-22
EP3640346A1 (en) 2020-04-22
US20130040824A1 (en) 2013-02-14
WO2012071621A1 (en) 2012-06-07
JP2019146561A (ja) 2019-09-05
EP2646579A1 (en) 2013-10-09
EP3243910A1 (en) 2017-11-15
JP2014502155A (ja) 2014-01-30
IL226272A0 (en) 2013-07-31
EP2646579B1 (en) 2017-06-14
IL250931A0 (en) 2017-04-30
HK1217553A1 (zh) 2017-01-13
MY169852A (en) 2019-05-17
CN108899091A (zh) 2018-11-27
TW201615841A (zh) 2016-05-01
US8741811B2 (en) 2014-06-03
DK3243910T3 (da) 2020-02-24
US12002544B2 (en) 2024-06-04
TWI719339B (zh) 2021-02-21
JP2023179458A (ja) 2023-12-19
IL226272A (en) 2016-02-29
KR20200133825A (ko) 2020-11-30
CA2817370A1 (en) 2012-06-07
TW201920685A (zh) 2019-06-01
EP4269623A3 (en) 2024-03-06
IL243823A (en) 2017-03-30
KR102723107B1 (ko) 2024-10-28
KR20180095941A (ko) 2018-08-28
TW202132572A (zh) 2021-09-01
MX370249B (es) 2019-12-06
KR102333664B1 (ko) 2021-12-01
KR102040307B1 (ko) 2019-11-27
CN114678128A (zh) 2022-06-28
KR20210148410A (ko) 2021-12-07
CN108899091B (zh) 2022-04-15
TWI642786B (zh) 2018-12-01
MX2013006075A (es) 2013-07-02
KR20190125535A (ko) 2019-11-06
KR101891847B1 (ko) 2018-08-24
MX2019014657A (es) 2020-02-07
JP6487504B2 (ja) 2019-03-20
DK2646579T3 (en) 2017-08-07
AU2011335891B2 (en) 2015-03-26
KR102489749B1 (ko) 2023-01-17
KR20230014851A (ko) 2023-01-30
TW201307570A (zh) 2013-02-16
SG10201509766YA (en) 2015-12-30
JP6196157B2 (ja) 2017-09-20
BR112013013421A2 (pt) 2016-09-06
SG190344A1 (en) 2013-06-28
US20170220736A1 (en) 2017-08-03
CN105243295A (zh) 2016-01-13
JP2018019696A (ja) 2018-02-08
JP6931013B2 (ja) 2021-09-01
MX349568B (es) 2017-08-03
SG10202008532PA (en) 2020-10-29
IL243823A0 (en) 2016-04-21
KR102185244B1 (ko) 2020-12-02
TWI786520B (zh) 2022-12-11
EP2646579A4 (en) 2014-06-04
EA201300649A1 (ru) 2013-10-30
US9965585B2 (en) 2018-05-08
AU2011335891A1 (en) 2013-05-02
US20250006299A1 (en) 2025-01-02
EP4269623A2 (en) 2023-11-01
ZA201304625B (en) 2016-09-28
EA038374B1 (ru) 2021-08-17
JP7351537B2 (ja) 2023-09-27
US20140227699A1 (en) 2014-08-14
NZ611599A (en) 2015-05-29
JP2022000021A (ja) 2022-01-04
CN103403182A (zh) 2013-11-20
HK1190437A1 (zh) 2014-07-04
EP3243910B1 (en) 2019-12-25
CN105243295B (zh) 2018-08-17
TWI532843B (zh) 2016-05-11
CN103403182B (zh) 2015-11-25

Similar Documents

Publication Publication Date Title
US20250006299A1 (en) Detection of genetic or molecular aberrations associated with cancer
AU2022202130A1 (en) Detection of genetic or molecular aberrations associated with cancer
HK40028054A (en) Analysis of a biological sample of an organism for chromosomal deletions or amplifications associated with cancer
HK1240278A1 (en) Determination of progress of chromosomal aberrations in an organism
HK1190435A (en) Detection of genetic or molecular aberrations associated with cancer
HK1190435B (en) Detection of genetic or molecular aberrations associated with cancer