CN110914450B - 无细胞dna的体细胞来源或种系来源的鉴定 - Google Patents

无细胞dna的体细胞来源或种系来源的鉴定 Download PDF

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CN110914450B
CN110914450B CN201880047621.1A CN201880047621A CN110914450B CN 110914450 B CN110914450 B CN 110914450B CN 201880047621 A CN201880047621 A CN 201880047621A CN 110914450 B CN110914450 B CN 110914450B
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cfdna
genomic
metrics
cancer
threshold
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CN110914450A (zh
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理查德·B·兰曼
杰弗里·R·奥克斯纳德
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Dana Farber Cancer Institute Inc
Guardant Health Inc
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Guardant Health Inc
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
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    • C12Q1/6869—Methods for sequencing
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    • 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
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/12—Computing arrangements based on biological models using genetic models
    • G06N3/123—DNA computing
    • 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
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B30/20—Sequence assembly
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
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    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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

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  • Engineering & Computer Science (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
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  • Proteomics, Peptides & Aminoacids (AREA)
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CN201880047621.1A 2017-05-16 2018-05-16 无细胞dna的体细胞来源或种系来源的鉴定 Active CN110914450B (zh)

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US201762507127P 2017-05-16 2017-05-16
US62/507,127 2017-05-16
PCT/US2018/033038 WO2018213498A1 (en) 2017-05-16 2018-05-16 Identification of somatic or germline origin for cell-free dna

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US (2) US20200202224A1 (enExample)
EP (2) EP4461826A3 (enExample)
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EP3682035B1 (en) * 2017-09-15 2025-02-05 The Regents of the University of California Detecting somatic single nucleotide variants from cell-free nucleic acid with application to minimal residual disease monitoring
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US10801064B2 (en) 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
EP4055610A4 (en) 2019-11-05 2023-11-29 Personalis, Inc. ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES
US20240004969A1 (en) * 2020-04-17 2024-01-04 Children's Hospital Los Angeles Watermarking of genomic sequencing data
JP2023529838A (ja) * 2020-06-05 2023-07-12 ファウンデーション・メディシン・インコーポレイテッド 生殖系列ゲノム配列から体細胞ゲノム配列を区別するための方法及びシステム
CN115497556A (zh) * 2021-06-18 2022-12-20 广州燃石医学检验所有限公司 一种用于区分体细胞突变和种系突变的方法
WO2023284260A1 (zh) * 2021-07-12 2023-01-19 广州燃石医学检验所有限公司 基于血液测序的肿瘤内异质性的评估方法及其用于预测免疫疗法的应答
CN113278706B (zh) * 2021-07-23 2021-11-12 广州燃石医学检验所有限公司 一种用于区分体细胞突变和种系突变的方法
CN113462768B (zh) * 2021-07-29 2023-05-30 中国医学科学院整形外科医院 一种利用ddPCR检测小耳畸形患者ECR区域的拷贝数的引物及试剂盒
EP4413580A4 (en) 2021-10-05 2025-08-13 Personalis Inc PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING
CN114613432B (zh) * 2021-12-14 2024-10-22 中国科学院动物研究所 一种基于基因组稀有突变负荷变化和基因功能关联发现分子标志物的方法及系统
US20230323449A1 (en) * 2021-12-17 2023-10-12 Twist Bioscience Corporation Compositions and methods for detection of variants
US20230215513A1 (en) * 2021-12-31 2023-07-06 Sophia Genetics S.A. Methods and systems for detecting tumor mutational burden
KR102544002B1 (ko) * 2022-03-10 2023-06-16 주식회사 아이엠비디엑스 체세포 변이 및 생식세포 변이를 구별하는 방법
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
US20240071628A1 (en) * 2022-08-24 2024-02-29 Guardant Health, Inc. Database for therapeutic interventions
US20250140343A1 (en) * 2023-10-30 2025-05-01 Myriad Women's Health, Inc. Methods for improving minimal residual disease assays

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EP3625341B1 (en) 2024-09-25
JP7123975B2 (ja) 2022-08-23
EP4461826A3 (en) 2025-05-14
JP7513653B2 (ja) 2024-07-09
JP2020521442A (ja) 2020-07-27
EP3625341A4 (en) 2021-05-19
JP2022110013A (ja) 2022-07-28
WO2018213498A1 (en) 2018-11-22
US20200202224A1 (en) 2020-06-25
EP3625341C0 (en) 2024-09-25
ES2991960T3 (es) 2024-12-05
EP3625341A1 (en) 2020-03-25
US20250292103A1 (en) 2025-09-18
CN110914450A (zh) 2020-03-24
EP4461826A2 (en) 2024-11-13
JP2024105539A (ja) 2024-08-06
CN118711654A (zh) 2024-09-27

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