CN117012283A - 无细胞dna分析中基因融合检测的方法和应用 - Google Patents

无细胞dna分析中基因融合检测的方法和应用 Download PDF

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Publication number
CN117012283A
CN117012283A CN202310985498.0A CN202310985498A CN117012283A CN 117012283 A CN117012283 A CN 117012283A CN 202310985498 A CN202310985498 A CN 202310985498A CN 117012283 A CN117012283 A CN 117012283A
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fusion
breakpoint
read
reads
sequence
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穆罕默德·R·莫克塔里
巴赫拉姆·加法尔扎德·克曼尼
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Guardant Health Inc
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    • 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
    • C—CHEMISTRY; METALLURGY
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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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12Q1/6869—Methods for sequencing
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • 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
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/23—Clustering techniques
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F18/00—Pattern recognition
    • G06F18/20—Analysing
    • G06F18/25—Fusion techniques
    • G06F18/253—Fusion techniques of extracted features
    • 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
    • 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
    • G16B40/30—Unsupervised data analysis

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  • General Physics & Mathematics (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN202310985498.0A 2015-10-10 2016-10-10 无细胞dna分析中基因融合检测的方法和应用 Pending CN117012283A (zh)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201562239879P 2015-10-10 2015-10-10
US62/239,879 2015-10-10
CN201680071449.4A CN108368546B (zh) 2015-10-10 2016-10-10 无细胞dna分析中基因融合检测的方法和应用
PCT/US2016/056314 WO2017062970A1 (en) 2015-10-10 2016-10-10 Methods and applications of gene fusion detection in cell-free dna analysis

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US (2) US12603152B2 (https=)
EP (2) EP3693459A1 (https=)
JP (3) JP6824973B2 (https=)
CN (2) CN117012283A (https=)
ES (1) ES2796501T3 (https=)
HK (1) HK1259281A1 (https=)
WO (1) WO2017062970A1 (https=)

Families Citing this family (37)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2625288T3 (es) 2011-04-15 2017-07-19 The Johns Hopkins University Sistema de secuenciación segura
AU2013338393C1 (en) 2012-10-29 2024-07-25 The Johns Hopkins University Papanicolaou test for ovarian and endometrial cancers
EP4293125A3 (en) 2012-12-10 2024-02-28 Resolution Bioscience, Inc. Methods for targeted genomic analysis
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
US11286531B2 (en) 2015-08-11 2022-03-29 The Johns Hopkins University Assaying ovarian cyst fluid
EP3693459A1 (en) 2015-10-10 2020-08-12 Guardant Health, Inc. Methods and applications of gene fusion detection in cell-free dna analysis
RU2018121254A (ru) 2015-11-11 2019-12-16 Резолюшн Байосайенс, Инк. Высокоэффективное построение библиотек днк
US11319594B2 (en) 2016-08-25 2022-05-03 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
JP6560465B1 (ja) 2016-09-30 2019-08-21 ガーダント ヘルス， インコーポレイテッド 無細胞核酸の多重解像度分析のための方法
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
WO2018213814A1 (en) * 2017-05-19 2018-11-22 Guardant Health, Inc. Methods and systems for detecting insertions and deletions
US10964410B2 (en) * 2017-05-25 2021-03-30 Koninklijke Philips N.V. System and method for detecting gene fusion
GB201709675D0 (en) 2017-06-16 2017-08-02 Inivata Ltd Method for detecting genomic rearrangements
IL319255A (en) 2017-08-07 2025-04-01 Univ Johns Hopkins Methods and materials for cancer assessment and treatment
CN110021346B (zh) * 2018-01-09 2023-06-30 上海交通大学医学院附属瑞金医院 基于RNAseq数据的基因融合与突变检测方法及系统
CN108304693B (zh) * 2018-01-23 2022-02-25 元码基因科技（北京）股份有限公司 利用高通量测序数据分析基因融合的方法
CN119753091A (zh) 2018-04-02 2025-04-04 格里尔公司 用于扩增与癌症相关联的cfDNA分子的化验板
AU2019252947A1 (en) 2018-04-13 2020-10-29 Guardant Health, Inc. Methods for detecting and suppressing alignment errors caused by fusion events
JP7535998B2 (ja) * 2018-08-31 2024-08-19 ガーダント ヘルス， インコーポレイテッド マージされたリードおよびマージされないリードに基づいた遺伝的変異体の検出
IL281741B2 (en) 2018-09-27 2026-04-01 Grail Inc Methylation markers and a targeted methylation detection panel
US20210313011A1 (en) * 2018-10-17 2021-10-07 Quest Diagnostics Investments Llc Genomic sequencing selection system
EP4524263A3 (en) * 2018-10-31 2025-05-28 Guardant Health, Inc. Methods, compositions and systems for calibrating epigenetic partitioning assays
GB2596233B (en) * 2018-12-20 2023-10-11 Veracyte Inc Methods and systems for detecting genetic fusions to identify a lung disorder
CN109777864A (zh) * 2018-12-29 2019-05-21 武汉康圣达医学检验所有限公司 一种检测bcr-abl融合基因abl激酶区突变的方法
EP4567131A3 (en) 2019-01-31 2025-09-03 Guardant Health, Inc. Compositions and methods for isolating cell-free dna
US11610648B2 (en) * 2019-04-18 2023-03-21 Life Technologies Corporation Methods for context based compression of genomic data for immuno-oncology biomarkers
CN115136241A (zh) * 2020-02-14 2022-09-30 夸登特健康公司 用于确定融合事件的方法和系统
JP2023513606A (ja) 2020-02-14 2023-03-31 ザ・ジョンズ・ホプキンス・ユニバーシティー 核酸を評価するための方法および材料
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
WO2021231921A1 (en) * 2020-05-14 2021-11-18 Guardant Health, Inc. Homologous recombination repair deficiency detection
JP2022020034A (ja) * 2020-06-24 2022-01-31 法親 緒方 ＧＩＳＡＩＤ ＥｐｉＦｌｕＴＭ Ｄａｔａｂａｓｅから取得可能であるＦＡＳＴＡフォーマットウイルスゲノム塩基配列電子データの加工方法
CN113106149B (zh) * 2021-04-26 2023-01-17 福建和瑞基因科技有限公司 融合基因检测参考品的制备方法及融合基因检测参考品的应用
CN113862344A (zh) * 2021-09-09 2021-12-31 成都齐碳科技有限公司 基因融合的检测方法和装置
CN113986149B (zh) * 2021-12-27 2022-04-22 苏州浪潮智能科技有限公司 一种系统故障处理方法、装置、设备及存储介质
CN114822700B (zh) * 2022-04-25 2023-02-17 至本医疗科技（上海）有限公司 用于呈现重排或融合结构亚型的方法、设备和介质

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090202999A1 (en) * 2007-06-01 2009-08-13 Monoquant Pty Ltd method for dna breakpoint analysis
US8847799B1 (en) * 2013-06-03 2014-09-30 Good Start Genetics, Inc. Methods and systems for storing sequence read data

Family Cites Families (63)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5242794A (en) 1984-12-13 1993-09-07 Applied Biosystems, Inc. Detection of specific sequences in nucleic acids
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4988617A (en) 1988-03-25 1991-01-29 California Institute Of Technology Method of detecting a nucleotide change in nucleic acids
US5494810A (en) 1990-05-03 1996-02-27 Cornell Research Foundation, Inc. Thermostable ligase-mediated DNA amplifications system for the detection of genetic disease
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
AU2324997A (en) 1996-03-15 1997-10-01 Penn State Research Foundation, The Detection of extracellular tumor-associated nucleic acid in blood plasma or ser um using nucleic acid amplification assays
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6054276A (en) 1998-02-23 2000-04-25 Macevicz; Stephen C. DNA restriction site mapping
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
GB9901475D0 (en) 1999-01-22 1999-03-17 Pyrosequencing Ab A method of DNA sequencing
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
US6849403B1 (en) * 1999-09-08 2005-02-01 Exact Sciences Corporation Apparatus and method for drug screening
US6586177B1 (en) 1999-09-08 2003-07-01 Exact Sciences Corporation Methods for disease detection
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
US6582938B1 (en) 2001-05-11 2003-06-24 Affymetrix, Inc. Amplification of nucleic acids
US7406385B2 (en) 2001-10-25 2008-07-29 Applera Corporation System and method for consensus-calling with per-base quality values for sample assemblies
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
WO2005042781A2 (en) 2003-10-31 2005-05-12 Agencourt Personal Genomics Corporation Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof
WO2006047787A2 (en) 2004-10-27 2006-05-04 Exact Sciences Corporation Method for monitoring disease progression or recurrence
US7601499B2 (en) 2005-06-06 2009-10-13 454 Life Sciences Corporation Paired end sequencing
US20090170713A1 (en) 2005-09-29 2009-07-02 Keygene N.V. High throughput screening of mutagenized populations
US7329860B2 (en) 2005-11-23 2008-02-12 Illumina, Inc. Confocal imaging methods and apparatus
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
US7835871B2 (en) 2007-01-26 2010-11-16 Illumina, Inc. Nucleic acid sequencing system and method
WO2008148072A2 (en) 2007-05-24 2008-12-04 The Brigham And Women's Hospital, Inc. Disease-associated genetic variations and methods for obtaining and using same
US20100285475A1 (en) * 2007-10-22 2010-11-11 Agency For Science, Technology And Research Fused genes
US8383345B2 (en) 2008-09-12 2013-02-26 University Of Washington Sequence tag directed subassembly of short sequencing reads into long sequencing reads
US20100301398A1 (en) 2009-05-29 2010-12-02 Ion Torrent Systems Incorporated Methods and apparatus for measuring analytes
US8546128B2 (en) 2008-10-22 2013-10-01 Life Technologies Corporation Fluidics system for sequential delivery of reagents
US20120165202A1 (en) 2009-04-30 2012-06-28 Good Start Genetics, Inc. Methods and compositions for evaluating genetic markers
US8673627B2 (en) 2009-05-29 2014-03-18 Life Technologies Corporation Apparatus and methods for performing electrochemical reactions
US8574835B2 (en) 2009-05-29 2013-11-05 Life Technologies Corporation Scaffolded nucleic acid polymer particles and methods of making and using
EP3088532B1 (en) * 2009-12-22 2019-10-30 Sequenom, Inc. Processes and kits for identifying aneuploidy
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
CN101886119A (zh) * 2010-02-11 2010-11-17 王宏伟 一种检测基因断裂融合的方法
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor biomarkers
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
KR20190002733A (ko) 2010-12-30 2019-01-08 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
WO2012097053A1 (en) 2011-01-11 2012-07-19 Via Genomes, Inc. Methods, systems, databases, kits and arrays for screening for and predicting the risk of and identifying the presence of tumors and cancers
ES2625288T3 (es) 2011-04-15 2017-07-19 The Johns Hopkins University Sistema de secuenciación segura
EP2705157B1 (en) 2011-05-06 2017-02-01 New England Biolabs, Inc. Ligation enhancement
CA2838736A1 (en) * 2011-06-07 2012-12-13 Caris Mpi, Inc. Molecular profiling for cancer
US20140323320A1 (en) * 2011-12-31 2014-10-30 Bgi Tech Solutions Co., Ltd. Method of detecting fused transcripts and system thereof
DK2814959T3 (en) 2012-02-17 2018-04-23 Hutchinson Fred Cancer Res COMPOSITIONS AND PROCEDURES FOR EXACTLY IDENTIFYING MUTATIONS
US9862995B2 (en) 2012-03-13 2018-01-09 Abhijit Ajit Patel Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
EP3744857A1 (en) 2012-03-20 2020-12-02 University Of Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
CN104797936B (zh) * 2012-07-24 2017-11-24 纽约市哥伦比亚大学理事会 融合蛋白及其方法
US20140336943A1 (en) 2013-01-05 2014-11-13 Foundation Medicine, Inc. System and method for managing genomic testing results
EP2945652B1 (en) 2013-01-18 2021-07-07 Foundation Medicine, Inc. Methods of treating cholangiocarcinoma
US10119134B2 (en) 2013-03-15 2018-11-06 Abvitro Llc Single cell bar-coding for antibody discovery
CN113337604A (zh) 2013-03-15 2021-09-03 莱兰斯坦福初级大学评议会 循环核酸肿瘤标志物的鉴别和用途
US20150142328A1 (en) 2013-11-18 2015-05-21 Electronics And Telecommunications Research Institute Calculation method for interchromosomal translocation position
SG11201607772WA (en) 2014-03-31 2016-10-28 Debiopharm Int Sa Fgfr fusions
WO2016011141A1 (en) 2014-07-17 2016-01-21 Blueprint Medicines Corporation Fgr fusions
EP3191628B1 (en) 2014-09-12 2022-05-25 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acids
EP3256605B1 (en) 2015-02-10 2022-02-09 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
CN104894271B (zh) * 2015-06-10 2020-02-21 天津诺禾致源生物信息科技有限公司 一种检测基因融合的方法及装置
EP3693459A1 (en) 2015-10-10 2020-08-12 Guardant Health, Inc. Methods and applications of gene fusion detection in cell-free dna analysis
GB201709675D0 (en) 2017-06-16 2017-08-02 Inivata Ltd Method for detecting genomic rearrangements
CN109929920A (zh) 2017-12-19 2019-06-25 李劲风 用于检测基因融合的多重pcr方法、试剂盒和组合物

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090202999A1 (en) * 2007-06-01 2009-08-13 Monoquant Pty Ltd method for dna breakpoint analysis
US8847799B1 (en) * 2013-06-03 2014-09-30 Good Start Genetics, Inc. Methods and systems for storing sequence read data

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
JAN SCHRÖDER等: "Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads", BIOINFORMATICS, vol. 30, no. 08, 2 January 2014 (2014-01-02), pages 1064 - 1072 *

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