CN107630070B - 母体血浆中胎儿dna分数的基于大小的分析 - Google Patents

母体血浆中胎儿dna分数的基于大小的分析 Download PDF

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CN107630070B
CN107630070B CN201710962960.XA CN201710962960A CN107630070B CN 107630070 B CN107630070 B CN 107630070B CN 201710962960 A CN201710962960 A CN 201710962960A CN 107630070 B CN107630070 B CN 107630070B
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dna
dna fragments
size
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cancer
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CN107630070A (zh
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卢煜明
陈君赐
郑文莉
江培勇
廖嘉炜
赵慧君
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Chinese University of Hong Kong CUHK
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Families Citing this family (125)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TWI335354B (en) 2006-09-27 2011-01-01 Univ Hong Kong Chinese Methods for the detection of the degree of the methylation of a target dna and kits
AU2010317019B2 (en) 2009-11-06 2014-10-30 The Chinese University Of Hong Kong Size-based genomic analysis
US11322224B2 (en) * 2010-05-18 2022-05-03 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
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
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
US9677118B2 (en) 2014-04-21 2017-06-13 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
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
JP6153874B2 (ja) 2011-02-09 2017-06-28 ナテラ， インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HUE059847T2 (hu) 2012-01-20 2023-01-28 Sequenom Inc Kísérleti körülményeket fakturáló diagnosztikai folyamatok
EP3401399B1 (en) 2012-03-02 2020-04-22 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
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013177086A1 (en) * 2012-05-21 2013-11-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
ES2769241T5 (es) 2012-09-04 2023-05-30 Guardant Health Inc Sistemas y métodos para detectar variación en el número de copias
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
SG10202009015SA (en) 2012-12-10 2020-10-29 Resolution Bioscience Inc Methods for targeted genomic analysis
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
WO2014165596A1 (en) 2013-04-03 2014-10-09 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
US10174375B2 (en) 2013-09-20 2019-01-08 The Chinese University Of Hong Kong Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases
KR102514024B1 (ko) 2013-10-04 2023-03-23 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
CN111863131A (zh) 2013-10-07 2020-10-30 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
KR102373647B1 (ko) 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
KR102205950B1 (ko) 2013-11-07 2021-01-22 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 인간 마이크로바이옴 및 그의 성분의 분석을 위한 무세포 핵산
GB2520765A (en) * 2013-12-02 2015-06-03 Vanadis Diagnostics Ab Multiplex detection of nucleic acids
CN111534580B (zh) 2013-12-28 2024-06-04 夸登特健康公司 用于检测遗传变异的方法和系统
GB2524948A (en) * 2014-03-07 2015-10-14 Oxford Gene Technology Operations Ltd Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2015249846B2 (en) 2014-04-21 2021-07-22 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
EP3521454A1 (en) 2014-05-09 2019-08-07 LifeCodexx AG Detection of dna that originates from a specific cell-type and related methods
EP2942400A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
US10318704B2 (en) 2014-05-30 2019-06-11 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
SI3178941T1 (sl) * 2014-07-25 2022-04-29 Bgi Genomics Co., Limited Postopek za določanje deleža brezceličnih fetalnih nukleinskih kislin v vzorcu periferne krvi nosečnice in njegova uporaba
WO2016015058A2 (en) 2014-07-25 2016-01-28 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
ES3047391T3 (en) * 2014-07-30 2025-12-03 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
EP3567120B1 (en) 2014-12-12 2020-08-19 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
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
US11242559B2 (en) 2015-01-13 2022-02-08 The Chinese University Of Hong Kong Method of nuclear DNA and mitochondrial DNA analysis
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
SG11201706529TA (en) 2015-02-10 2017-09-28 Univ Hong Kong Chinese Detecting mutations for cancer screening and fetal analysis
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
EP3294906B1 (en) 2015-05-11 2024-07-10 Natera, Inc. Methods for determining ploidy
CN107922971A (zh) 2015-05-18 2018-04-17 凯锐思公司 用于富集核酸群体的组合物和方法
EP3298166B1 (en) 2015-05-22 2020-02-12 Nipd Genetics Public Company Limited Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
DK3325664T3 (da) 2015-07-23 2022-03-07 Univ Hong Kong Chinese Analyse af fragmenteringsmønstre for cellefrit DNA
US20180245037A1 (en) * 2015-09-11 2018-08-30 INSERM (Institut National de la Sante et de la Researche Medicale) Non-Invasive Methods for Assessing Genetic Integrity of Pluripotent Stem Cells
TWI858334B (zh) * 2015-09-22 2024-10-11 香港中文大學 藉由母體血漿ｄｎａ之淺深度測序以準確定量胎兒dna含量
KR101848438B1 (ko) * 2015-10-29 2018-04-13 바이오코아 주식회사 디지털 pcr을 이용한 산전진단 방법
HUE050491T2 (hu) 2015-11-10 2020-12-28 Eurofins Lifecodexx Gmbh Magzati kromoszomális aneuploidiák kimutatása olyan DNS régiókat alkalmazva, amelyek különbözõképpen vannak metilezve a magzat és a terhes nõstény között
CA3004435A1 (en) 2015-11-11 2017-05-18 Resolution Bioscience, Inc. High efficiency construction of dna libraries
CA3008651A1 (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
CN109154599A (zh) 2016-03-24 2019-01-04 生物动力学公司 一次性射流卡盘及组件
BR112018069557A2 (pt) 2016-03-25 2019-01-29 Karius Inc spike-ins de ácido nucléico sintético
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
EP3491560A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Genetic copy number alteration classifications
US11319594B2 (en) 2016-08-25 2022-05-03 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
WO2018072705A1 (en) 2016-10-19 2018-04-26 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma dna
TWI797095B (zh) 2016-10-24 2023-04-01 美商格瑞爾有限責任公司 腫瘤檢測之方法及系統
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
EP3535422A2 (en) 2016-11-07 2019-09-11 Grail, Inc. Methods of identifying somatic mutational signatures for early cancer detection
US11435339B2 (en) 2016-11-30 2022-09-06 The Chinese University Of Hong Kong Analysis of cell-free DNA in urine
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN106591451B (zh) * 2016-12-14 2020-06-23 北京贝瑞和康生物技术有限公司 测定胎儿游离dna含量的方法及其用于实施该方法的装置
CA3207879A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
ES2990117T3 (es) 2017-01-25 2024-11-28 Univ Hong Kong Chinese Aplicaciones de diagnóstico que utilizan fragmentos de ácido nucleico
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
CA3059370C (en) 2017-04-12 2022-05-10 Karius, Inc. Methods for concurrent analysis of dna and rna in mixed samples
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
EP3622084A4 (en) 2017-05-08 2021-02-17 Biological Dynamics, Inc. PROCESSES AND SYSTEMS FOR PROCESSING INFORMATION ON ANALYTES
ES2959360T3 (es) 2017-07-26 2024-02-23 Univ Hong Kong Chinese Mejora del cribado del cáncer mediante ácidos nucleicos víricos acelulares
AU2018355575A1 (en) 2017-10-27 2020-05-21 Juno Diagnostics, Inc. Devices, systems and methods for ultra-low volume liquid biopsy
US11168356B2 (en) * 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
WO2019118926A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
US20210214798A1 (en) * 2017-12-19 2021-07-15 Biological Dynamics, Inc. Methods and devices for detecting and quantifying cell-free dna fragments
JP2021509265A (ja) 2017-12-19 2021-03-25 バイオロジカル ダイナミクス，インク． 生体サンプルからの複数の分析物の検出のための方法およびデバイス
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
EP3765631A4 (en) * 2018-03-13 2021-12-08 Guardant Health, Inc. METHOD OF NON-INVASIVE DETECTION AND MONITORING OF THERAPEUTIC NUCLEIC ACID CONSTRUCTS
WO2019178157A1 (en) 2018-03-16 2019-09-19 Karius, Inc. Sample series to differentiate target nucleic acids from contaminant nucleic acids
CA3095030A1 (en) 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
JP2021520218A (ja) 2018-04-02 2021-08-19 バイオロジカル ダイナミクス，インク． 誘電体材料
EP3775198A4 (en) 2018-04-02 2022-01-05 Grail, Inc. METHYLATION MARKERS AND TARGETED METHYLATION PROBE PANELS
CA3090426A1 (en) 2018-04-14 2019-10-17 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna
WO2019209884A1 (en) 2018-04-23 2019-10-31 Grail, Inc. Methods and systems for screening for conditions
WO2019226822A1 (en) * 2018-05-23 2019-11-28 The Regents Of The University Of California Methods of analyzing capped ribonucleic acids
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN113286881A (zh) 2018-09-27 2021-08-20 格里尔公司 甲基化标记和标靶甲基化探针板
EP3884502B1 (en) 2018-11-19 2022-11-09 Sistemas Genómicos, S.L. Method and computer program product for analysis of fetal dna by massive sequencing
CA3118990A1 (en) 2018-11-21 2020-05-28 Karius, Inc. Direct-to-library methods, systems, and compositions
AU2019410635A1 (en) 2018-12-19 2021-06-17 Grail, Inc. Cell-free DNA end characteristics
EP3938534A4 (en) 2019-03-13 2023-03-29 Grail, LLC SYSTEMS AND METHODS FOR ENCOURAGEMENT OF CANCER DERIVATIVE FRAGMENTS BY FRAGMENT SIZE
AU2020246747A1 (en) 2019-03-25 2021-08-26 Grail, Inc. Determining linear and circular forms of circulating nucleic acids
CN110136794A (zh) * 2019-05-22 2019-08-16 湖北可汗广电文化有限公司 一种基于人工智能的母婴全生命周期健康医疗服务系统
WO2021034034A1 (ko) * 2019-08-19 2021-02-25 주식회사 녹십자지놈 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법
KR20220097894A (ko) * 2019-10-16 2022-07-08 스틸라 테크놀로지스 핵산 서열 농도의 측정
AU2020391488A1 (en) 2019-11-27 2022-06-09 GRAIL, Inc Systems and methods for evaluating longitudinal biological feature data
KR102662186B1 (ko) 2020-02-05 2024-05-07 더 차이니즈 유니버시티 오브 홍콩 임신 중 긴 세포유리 단편을 사용한 분자 분석
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
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
WO2022271730A1 (en) 2021-06-21 2022-12-29 Guardant Health, Inc. Methods and compositions for copy-number informed tissue-of-origin analysis
WO2023056065A1 (en) 2021-09-30 2023-04-06 Guardant Health, Inc. Compositions and methods for synthesis and use of probes targeting nucleic acid rearrangements
KR20240174893A (ko) 2023-06-08 2024-12-18 지놈케어 주식회사 태아 분획을 증가시키는 방법
WO2025137389A2 (en) 2023-12-22 2025-06-26 Guardant Health, Inc. Methods for targeted single-molecule genetic and epigenetic sequencing

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101849236A (zh) * 2007-07-23 2010-09-29 香港中文大学 利用基因组测序诊断胎儿染色体非整倍性
WO2011053790A2 (en) * 2009-10-30 2011-05-05 Fluidigm Corporation Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis
CN102369299A (zh) * 2009-03-31 2012-03-07 奥里迪斯生物标记有限责任公司 用于癌症诊断和癌症治疗监测的方法

Family Cites Families (106)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
AU776811C (en) 1999-10-13 2005-07-28 Agena Bioscience, Inc. Methods for generating databases and databases for identifying polymorphic genetic markers
GB0016742D0 (en) 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
US8898021B2 (en) 2001-02-02 2014-11-25 Mark W. Perlin Method and system for DNA mixture analysis
JP2002272497A (ja) 2001-03-15 2002-09-24 Venture Link Co Ltd 癌の診断方法、およびその診断用ベクター
IL158017A0 (en) 2001-03-23 2004-03-28 Gencell Sa Methods for purifying and detecting double stranded dna target sequences by triple helix interaction
EP1448205B1 (en) 2001-10-05 2011-03-23 Zalicus Inc. Combinations for the treatment of immunoinflammatory disorders
US20030180765A1 (en) 2002-02-01 2003-09-25 The Johns Hopkins University Digital amplification for detection of mismatch repair deficient tumor cells
IL163600A0 (en) 2002-03-01 2005-12-18 Ravgen Inc Methods for detection of genetic disorders
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US20060127902A1 (en) 2002-08-15 2006-06-15 Genzyme Corporation Brain endothelial cell expression patterns
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
JP2006521086A (ja) 2003-02-28 2006-09-21 ラブジェン， インコーポレイテッド 遺伝子疾患の検出方法
AU2004217872B2 (en) 2003-03-05 2010-03-25 Genetic Technologies Limited Identification of fetal DNA and fetal cell markers in maternal plasma or serum
AU2003901671A0 (en) 2003-04-02 2003-05-01 The University Of Adelaide Comparative genomic hybridization
RU2249820C1 (ru) 2003-08-18 2005-04-10 Лактионов Павел Петрович Способ ранней диагностики заболеваний, связанных с нарушением функционирования генетического аппарата клетки
US20050282213A1 (en) 2003-09-22 2005-12-22 Trisogen Biotechnology Limited Partnership Methods and kits useful for detecting an alteration in a locus copy number
EP2395111B1 (en) 2003-10-08 2015-05-13 Trustees of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
WO2005039389A2 (en) 2003-10-22 2005-05-06 454 Corporation Sequence-based karyotyping
EP1678329A4 (en) 2003-10-30 2008-07-02 Tufts New England Medical Ct PRENATAL DIAGNOSIS USING CELL-FREE FEDERAL DNA IN FRUIT WATER
DE102004036285A1 (de) 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
CN1779688A (zh) 2004-11-22 2006-05-31 寰硕数码股份有限公司 交互式医疗信息系统及方法
AU2006224971B2 (en) 2005-03-18 2009-07-02 Boston University A method for the detection of chromosomal aneuploidies
ES2313143T3 (es) 2005-04-06 2009-03-01 Maurice Stroun Metodo para el diagnostico de cancer mediante la deteccion de adn y arn circulantes.
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
EP2423334A3 (en) 2006-02-02 2012-04-18 The Board of Trustees of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
AU2007220991C1 (en) 2006-02-28 2013-08-15 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
EP2229948B1 (en) 2007-05-24 2012-12-19 Apceth GmbH & Co. KG Mesenchymal CD34- stem cells for use in diabetes gene therapy
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
EP3103463B1 (en) 2007-09-19 2020-01-01 Pluristem Ltd. Adherent cells from adipose or placenta tissues and use thereof in therapy
WO2009051842A2 (en) 2007-10-18 2009-04-23 The Johns Hopkins University Detection of cancer by measuring genomic copy number and strand length in cell-free dna
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
WO2010053980A2 (en) † 2008-11-04 2010-05-14 The Johns Hopkins University Dna integrity assay (dia) for cancer diagnostics, using confocal fluorescence spectroscopy
WO2011057094A1 (en) 2009-11-05 2011-05-12 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
AU2010317019B2 (en) 2009-11-06 2014-10-30 The Chinese University Of Hong Kong Size-based genomic analysis
JP2013510580A (ja) 2009-11-12 2013-03-28 エソテリックス ジェネティック ラボラトリーズ， エルエルシー 遺伝子座のコピー数の分析
US10662474B2 (en) 2010-01-19 2020-05-26 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP3006573B1 (en) 2010-01-19 2018-03-07 Verinata Health, Inc Methods for determining fraction of fetal nucleic acids in maternal samples
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20130210645A1 (en) 2010-02-18 2013-08-15 The Johns Hopkins University Personalized tumor biomarkers
US20130143214A1 (en) 2010-06-04 2013-06-06 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
EP4269623A3 (en) 2010-11-30 2024-03-06 The Chinese University Of Hong Kong Analysis of a biological sample of an organism for chromosomal deletions or amplifications associated with cancer
US20130059738A1 (en) 2011-04-28 2013-03-07 Life Technologies Corporation Methods and compositions for multiplex pcr
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
WO2013043922A1 (en) 2011-09-22 2013-03-28 ImmuMetrix, LLC Compositions and methods for analyzing heterogeneous samples
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013060762A1 (en) 2011-10-25 2013-05-02 Roche Diagnostics Gmbh Method for diagnosing a disease based on plasma-dna distribution
WO2013062856A1 (en) 2011-10-27 2013-05-02 Verinata Health, Inc. Set membership testers for aligning nucleic acid samples
FR2981833B1 (fr) 2011-10-28 2013-12-06 Oreal Sachet de conditionnement de produit cosmetique
US9757458B2 (en) 2011-12-05 2017-09-12 Immunomedics, Inc. Crosslinking of CD22 by epratuzumab triggers BCR signaling and caspase-dependent apoptosis in hematopoietic cancer cells
US20140364439A1 (en) 2011-12-07 2014-12-11 The Broad Institute, Inc. Markers associated with chronic lymphocytic leukemia prognosis and progression
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
US20130261984A1 (en) 2012-03-30 2013-10-03 Illumina, Inc. Methods and systems for determining fetal chromosomal abnormalities
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014026096A1 (en) 2012-08-10 2014-02-13 The Broad Institute, Inc. Methods and apparatus for analyzing and quantifying dna alterations in cancer
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
ES2769241T5 (es) 2012-09-04 2023-05-30 Guardant Health Inc Sistemas y métodos para detectar variación en el número de copias
US9769123B2 (en) 2012-09-06 2017-09-19 Intel Corporation Mitigating unauthorized access to data traffic
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
WO2014043763A1 (en) 2012-09-20 2014-03-27 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
US20140287937A1 (en) 2013-02-21 2014-09-25 Toma Biosciences, Inc. Methods for assessing cancer
CA2906818C (en) 2013-03-15 2022-08-16 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
CN105518151B (zh) 2013-03-15 2021-05-25 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
JP6088710B2 (ja) 2013-08-19 2017-03-01 シンギュラー・バイオ・インコーポレイテッド 単分子検出アッセイおよびその使用
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
KR102373647B1 (ko) 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
GB201319779D0 (en) 2013-11-08 2013-12-25 Cartagenia N V Genetic analysis method
WO2015095225A1 (en) 2013-12-19 2015-06-25 The Board Of Trustees Of The Leland Stanford Junior University Quantification of mutant alleles and copy number variation using digital pcr with nonspecific dna-binding dyes
GB2524948A (en) 2014-03-07 2015-10-14 Oxford Gene Technology Operations Ltd Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest
AU2015249846B2 (en) 2014-04-21 2021-07-22 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3143163B1 (en) 2014-05-13 2020-11-25 Board of Regents, The University of Texas System Gene mutations and copy number alterations of egfr, kras and met
US10318704B2 (en) 2014-05-30 2019-06-11 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies
CN106536756A (zh) 2014-06-26 2017-03-22 10X基因组学有限公司 核酸序列的分析
TWI727156B (zh) 2014-07-18 2021-05-11 香港中文大學 Ｄｎａ混合物中之組織甲基化模式分析
WO2016015058A2 (en) 2014-07-25 2016-01-28 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
JP6709778B2 (ja) 2014-08-22 2020-06-17 レゾリューション バイオサイエンス， インコーポレイテッド 無細胞ＤＮＡ（ｃｆＤＮＡ）の定量的遺伝子解析のための方法
CN107075730A (zh) 2014-09-12 2017-08-18 利兰·斯坦福青年大学托管委员会 循环核酸的鉴定及用途
US10699801B2 (en) 2014-09-12 2020-06-30 Illumina Cambridge Limited Detecting repeat expansions with short read sequencing data
EP3018213A1 (en) 2014-11-04 2016-05-11 Genesupport SA Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
KR20170083563A (ko) 2014-11-14 2017-07-18 리퀴드 제노믹스, 아이엔씨. 암 진단 및/또는 모니터링을 위한 무세포 rna의 사용 방법
EP3567120B1 (en) 2014-12-12 2020-08-19 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US20170342500A1 (en) 2014-12-19 2017-11-30 Danmarks Tekniske Universitet Method for identification of tissue or organ localization of a tumour
ES3017068T3 (en) 2014-12-31 2025-05-12 Guardant Health Inc Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results
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
SG11201706529TA (en) 2015-02-10 2017-09-28 Univ Hong Kong Chinese Detecting mutations for cancer screening and fetal analysis
CA2978628A1 (en) 2015-03-03 2016-09-09 Caris Mpi, Inc. Molecular profiling for cancer
ES2969767T3 (es) 2015-05-01 2024-05-22 Guardant Health Inc Métodos de diagnóstico
CA2985135A1 (en) 2015-05-06 2016-11-10 Seracare Life Sciences, Inc. Liposomal preparations for non-invasive-prenatal or cancer screening
EP3294906B1 (en) 2015-05-11 2024-07-10 Natera, Inc. Methods for determining ploidy
WO2017009372A2 (en) 2015-07-13 2017-01-19 Cartagenia Nv System and methodology for the analysis of genomic data obtained from a subject
US11124838B2 (en) 2015-08-07 2021-09-21 Dana-Farber Cancer Institute, Inc. Genetic abnormalities in plasma cell dyscrasias
EP4462438A3 (en) 2015-10-09 2025-02-26 Guardant Health, Inc. Population based treatment recommender using cell free dna
WO2017070497A1 (en) 2015-10-21 2017-04-27 Dana-Farber Cancer Institute, Inc. Methods and compositions for use of driver mutations in cll
CA3008651A1 (en) 2015-12-17 2017-06-22 Guardant Health, Inc. Methods to determine tumor gene copy number by analysis of cell-free dna
US10982286B2 (en) 2016-01-22 2021-04-20 Mayo Foundation For Medical Education And Research Algorithmic approach for determining the plasma genome abnormality PGA and the urine genome abnormality UGA scores based on cell free cfDNA copy number variations in plasma and urine
WO2017205826A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for detecting genetic variations
TWI797095B (zh) 2016-10-24 2023-04-01 美商格瑞爾有限責任公司 腫瘤檢測之方法及系統

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101849236A (zh) * 2007-07-23 2010-09-29 香港中文大学 利用基因组测序诊断胎儿染色体非整倍性
CN102369299A (zh) * 2009-03-31 2012-03-07 奥里迪斯生物标记有限责任公司 用于癌症诊断和癌症治疗监测的方法
WO2011053790A2 (en) * 2009-10-30 2011-05-05 Fluidigm Corporation Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
High Fragmentation Characterizes Tumour-Derived Circulating DNA;Florent Mouliere等;《PLOS ONE》;20110906;e23418 *

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