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JP2015527057A5
JP2015527057A5 JP2015517896A JP2015517896A JP2015527057A5 JP 2015527057 A5 JP2015527057 A5 JP 2015527057A5 JP 2015517896 A JP2015517896 A JP 2015517896A JP 2015517896 A JP2015517896 A JP 2015517896A JP 2015527057 A5 JP2015527057 A5 JP 2015527057A5
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JP2015517896A 2012-06-21 2013-06-14 癌検出のための血漿中dnaの突然変異解析 Active JP6371280B2 (ja)

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US201261662878P 2012-06-21 2012-06-21
US61/662,878 2012-06-21
US201261682725P 2012-08-13 2012-08-13
US61/682,725 2012-08-13
US201261695795P 2012-08-31 2012-08-31
US61/695,795 2012-08-31
US201261711172P 2012-10-08 2012-10-08
US61/711,172 2012-10-08
US13/801,748 2013-03-13
US13/801,748 US11261494B2 (en) 2012-06-21 2013-03-13 Method of measuring a fractional concentration of tumor DNA
PCT/IB2013/054898 WO2013190441A2 (en) 2012-06-21 2013-06-14 Mutational analysis of plasma dna for cancer detection

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JP2015527057A JP2015527057A (ja) 2015-09-17
JP2015527057A5 true JP2015527057A5 (https=) 2017-10-19
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JP2018132118A Active JP6930948B2 (ja) 2012-06-21 2018-07-12 癌検出のための血漿中dnaの突然変異解析
JP2021131682A Active JP7408161B2 (ja) 2012-06-21 2021-08-12 癌検出のための血漿中dnaの突然変異解析
JP2023210140A Pending JP2024026360A (ja) 2012-06-21 2023-12-13 癌検出のための血漿中dnaの突然変異解析

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JP2021131682A Active JP7408161B2 (ja) 2012-06-21 2021-08-12 癌検出のための血漿中dnaの突然変異解析
JP2023210140A Pending JP2024026360A (ja) 2012-06-21 2023-12-13 癌検出のための血漿中dnaの突然変異解析

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US (3) US11261494B2 (https=)
EP (4) EP3919627B1 (https=)
JP (4) JP6371280B2 (https=)
KR (7) KR102720785B1 (https=)
CN (3) CN107779506B (https=)
AU (4) AU2013278994C1 (https=)
CA (2) CA3080937A1 (https=)
DK (2) DK2864501T3 (https=)
EA (2) EA037292B1 (https=)
ES (2) ES2687847T3 (https=)
HU (1) HUE056915T2 (https=)
IL (5) IL298810B2 (https=)
MX (3) MX360264B (https=)
PT (1) PT3456843T (https=)
SG (2) SG10201808217WA (https=)
TW (4) TW202328458A (https=)
WO (1) WO2013190441A2 (https=)
ZA (1) ZA201409281B (https=)

Families Citing this family (125)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
PL2557520T3 (pl) 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
WO2010028288A2 (en) 2008-09-05 2010-03-11 Aueon, Inc. Methods for stratifying and annotating cancer drug treatment options
US10316362B2 (en) 2010-05-18 2019-06-11 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
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
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
EP2619329B1 (en) 2010-09-24 2019-05-22 The Board of Trustees of The Leland Stanford Junior University Direct capture, amplification and sequencing of target dna using immobilized primers
KR102759126B1 (ko) 2010-12-30 2025-01-24 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
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
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US20150011396A1 (en) 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014151117A1 (en) * 2013-03-15 2014-09-25 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
US9822408B2 (en) 2013-03-15 2017-11-21 Nugen Technologies, Inc. Sequential sequencing
WO2015073711A1 (en) 2013-11-13 2015-05-21 Nugen Technologies, Inc. Compositions and methods for identification of a duplicate sequencing read
ES2660989T3 (es) 2013-12-28 2018-03-27 Guardant Health, Inc. Métodos y sistemas para detectar variantes genéticas
US12492429B2 (en) * 2014-04-21 2025-12-09 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
US20180173846A1 (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
EP4358097A1 (en) * 2014-07-25 2024-04-24 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
CA2957633A1 (en) 2014-08-06 2016-02-11 Nugen Technologies, Inc. Digital measurements from targeted sequencing
DK3198026T3 (da) * 2014-08-07 2020-01-20 Pharmassist Ltd Fremgangsmåde til bestemmelse af pik3ca-mutationsstatus i en prøve
US12391985B2 (en) 2014-08-07 2025-08-19 Pharmassist Ltd Method of determining PIK3CA mutational status in a sample
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
EP3227464B1 (en) * 2014-12-05 2022-04-20 Foundation Medicine, Inc. Multigene analysis of tumor samples
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
EP3766986B1 (en) * 2014-12-31 2022-06-01 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
HUE058263T2 (hu) 2015-02-10 2022-07-28 Univ Hong Kong Chinese Mutációk detektálása rákszûrési és magzatelemzési célból
EP3288455B1 (en) * 2015-05-01 2023-12-06 Guardant Health, Inc. Diagnostic methods
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
CN104894268B (zh) * 2015-06-05 2018-02-09 上海美吉生物医药科技有限公司 定量样本中源自细胞凋亡的dna浓度的方法及其应用
JP6202659B2 (ja) * 2015-07-01 2017-09-27 学校法人慶應義塾 癌組織の不均一性マーカー及びその使用
JP2017016665A (ja) * 2015-07-03 2017-01-19 国立大学法人東北大学 配列のデータからの変異情報の選択方法、システム、及び、コンピュータプログラム
US10689706B2 (en) 2015-07-20 2020-06-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in a DNA mixture
IL305462A (en) 2015-07-23 2023-10-01 Univ Hong Kong Chinese DNA fragmentation pattern analysis suitable clean
CA2995422A1 (en) * 2015-08-12 2017-02-16 The Chinese University Of Hong Kong Single-molecule sequencing of plasma dna
AU2016310501B2 (en) 2015-08-25 2019-11-07 Nantomics, Llc Systems and methods for genetic analysis of metastases
US12540351B2 (en) * 2015-09-02 2026-02-03 Guardant Health, Inc. Identification of somatic mutations versus germline variants for cell-free DNA variant calling applications
SG11201805119QA (en) 2015-12-17 2018-07-30 Guardant Health Inc Methods to determine tumor gene copy number by analysis of cell-free dna
CN116640847A (zh) * 2016-02-02 2023-08-25 夸登特健康公司 癌症进化检测和诊断
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
KR101810528B1 (ko) * 2016-03-29 2017-12-21 한국과학기술원 단백질을 변화시키지 않는 암 돌연변이의 기능적 recurrence를 구하는 방법 및 장치
ES3002715T3 (en) * 2016-04-14 2025-03-07 Guardant Health Inc Methods for early detection of cancer
RU2760913C2 (ru) 2016-04-15 2021-12-01 Натера, Инк. Способы выявления рака легкого
EP3452937B1 (en) 2016-05-01 2025-10-22 Genome Research Limited Method of characterising a dna sample
GB2555765A (en) * 2016-05-01 2018-05-16 Genome Res Ltd Method of detecting a mutational signature in a sample
JP7224185B2 (ja) 2016-05-01 2023-02-17 ゲノム・リサーチ・リミテッド Dnaサンプルを特徴付ける方法
CN105969656B (zh) * 2016-05-13 2019-09-10 万康源(天津)基因科技有限公司 一种单细胞外显子测序肿瘤体细胞突变检测及分析平台
CN105969856B (zh) * 2016-05-13 2019-11-12 万康源(天津)基因科技有限公司 一种单细胞外显子测序肿瘤体细胞突变检测方法
CN106355045B (zh) * 2016-08-30 2019-03-15 天津诺禾致源生物信息科技有限公司 一种基于扩增子二代测序小片段插入缺失检测的方法及装置
EP3461274B1 (en) * 2016-09-30 2020-11-04 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
WO2018081130A1 (en) 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Methods and systems for tumor detection
GB201618485D0 (en) * 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
WO2018090298A2 (en) * 2016-11-17 2018-05-24 Genomicare Biotechnology (Shanghai) Co. Ltd. Systems and methods for monitoring lifelong tumor evolution
KR20260032575A (ko) 2016-11-30 2026-03-09 더 차이니즈 유니버시티 오브 홍콩 소변 및 기타 샘플에서의 무세포 dna의 분석
CN110383385B (zh) * 2016-12-08 2023-07-25 生命科技股份有限公司 从肿瘤样品中检测突变负荷的方法
CN106845153A (zh) * 2016-12-29 2017-06-13 安诺优达基因科技(北京)有限公司 一种用于利用循环肿瘤dna样本检测体细胞突变的装置
CN106874710A (zh) * 2016-12-29 2017-06-20 安诺优达基因科技(北京)有限公司 一种用于利用肿瘤ffpe样本检测体细胞突变的装置
SG11201906397UA (en) 2017-01-25 2019-08-27 Univ Hong Kong Chinese Diagnostic applications using nucleic acid fragments
US12492430B2 (en) 2017-04-11 2025-12-09 Tecan Genomics, Inc. Library quantitation and qualification
US11342047B2 (en) * 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CN110914450B (zh) * 2017-05-16 2024-07-02 夸登特健康公司 无细胞dna的体细胞来源或种系来源的鉴定
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
CN111051536A (zh) 2017-07-26 2020-04-21 香港中文大学 利用不含细胞的病毒核酸改善癌症筛选
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
CA3075932A1 (en) * 2017-09-20 2019-03-28 Guardant Health, Inc. Methods and systems for differentiating somatic and germline variants
AU2018348074A1 (en) * 2017-10-10 2020-04-16 Nantomics, Llc Comprehensive genomic transcriptomic tumor-normal gene panel analysis for enhanced precision in patients with cancer
US11099202B2 (en) 2017-10-20 2021-08-24 Tecan Genomics, Inc. Reagent delivery system
WO2019090156A1 (en) * 2017-11-03 2019-05-09 Guardant Health, Inc. Normalizing tumor mutation burden
CN110870016B (zh) * 2017-11-30 2024-09-06 伊鲁米那股份有限公司 用于序列变体呼出的验证方法和系统
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
US20190249229A1 (en) * 2018-02-12 2019-08-15 Nant Holdings Ip, Llc Bam signatures from liquid and solid tumors and uses therefor
US12024738B2 (en) 2018-04-14 2024-07-02 Natera, Inc. Methods for cancer detection and monitoring
WO2019204360A1 (en) * 2018-04-16 2019-10-24 Grail, Inc. Systems and methods for determining tumor fraction in cell-free nucleic acid
AU2019277698A1 (en) 2018-06-01 2020-11-19 Grail, Llc Convolutional neural network systems and methods for data classification
WO2019236478A1 (en) * 2018-06-04 2019-12-12 Guardant Health, Inc. Methods and systems for determining the cellular origin of cell-free nucleic acids
BR112020024727A2 (pt) 2018-06-11 2021-03-23 Foundation Medicine, Inc. composições e métodos para avaliação de alterações genômicas
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
WO2020023420A2 (en) * 2018-07-23 2020-01-30 Guardant Health, Inc. Methods and systems for adjusting tumor mutational burden by tumor fraction and coverage
BR112020026259A2 (pt) * 2018-11-01 2021-07-27 Illumina, Inc. métodos e composições para detecção de variante de linhagem germinativa
JP7499239B2 (ja) * 2018-11-13 2024-06-13 ミリアド・ジェネティックス・インコーポレイテッド 体細胞変異のための方法およびシステム、ならびにそれらの使用
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
CN113366122B (zh) 2018-12-19 2024-01-12 香港中文大学 游离dna末端特征
US20200219587A1 (en) * 2018-12-21 2020-07-09 Grail, Inc. Systems and methods for using fragment lengths as a predictor of cancer
CN109616198A (zh) * 2018-12-28 2019-04-12 陈洪亮 仅用于肝癌单一癌种筛查的特异甲基化检测位点组合的选取方法
CN109686414A (zh) * 2018-12-28 2019-04-26 陈洪亮 仅用于肝癌筛查的特异甲基化检测位点组合的选取方法
CN109817279B (zh) * 2019-01-18 2022-11-04 臻悦生物科技江苏有限公司 肿瘤突变负荷的检测方法、装置、存储介质及处理器
KR102381252B1 (ko) * 2019-02-19 2022-04-01 주식회사 녹십자지놈 혈중 무세포 dna 기반 간암 치료 예후예측 방법
CN109841265B (zh) * 2019-02-22 2021-09-21 清华大学 使用片段化模式确定血浆游离核酸分子组织来源的方法和系统及应用
CN109920480B (zh) * 2019-03-14 2020-02-21 深圳市海普洛斯生物科技有限公司 一种校正高通量测序数据的方法和装置
CN111755075B (zh) * 2019-03-28 2023-09-29 深圳华大生命科学研究院 对免疫组库高通量测序样本间序列污染进行过滤的方法
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
US12437839B2 (en) 2019-05-03 2025-10-07 Ultima Genomics, Inc. Methods for detecting nucleic acid variants
CN120412737A (zh) 2019-05-03 2025-08-01 阿尔缇玛基因组学公司 用于检测核酸变体的方法
CA3139535A1 (en) * 2019-05-17 2020-11-26 Ultima Genomics, Inc. Methods and systems for detecting residual disease
CN114026646A (zh) * 2019-05-20 2022-02-08 基金会医学公司 用于评估肿瘤分数的系统和方法
CN111223525A (zh) * 2020-01-07 2020-06-02 广州基迪奥生物科技有限公司 一种肿瘤外显子测序数据分析方法
EP3851542A1 (en) 2020-01-20 2021-07-21 Tecan Genomics, Inc. Depletion of abundant uninformative sequences
US12059674B2 (en) 2020-02-03 2024-08-13 Tecan Genomics, Inc. Reagent storage system
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN117063239A (zh) * 2021-03-05 2023-11-14 夸登特健康公司 用于分析分子响应的方法和相关方面
JP7022861B1 (ja) * 2021-06-25 2022-02-18 株式会社日立パワーソリューションズ アレイ型超音波送受信装置
CA3224461A1 (en) * 2021-06-30 2023-01-05 Jonathan Chee Ming WAN Detection of somatic mutational signatures from whole genome sequencing of cell-free dna
CN114242172B (zh) * 2021-07-12 2025-04-25 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
KR102935486B1 (ko) * 2021-12-06 2026-03-10 주식회사 지씨지놈 혈중 무세포 dna 기반 유방암 치료 예후예측 방법
CN115064212B (zh) * 2022-06-24 2023-03-14 哈尔滨星云生物信息技术开发有限公司 基于wgs数据的预设区域人群肿瘤特异突变识别方法
EP4547869A1 (en) 2022-06-29 2025-05-07 Raman Govindarajan Method for detecting cancer susceptibility, early detection and predicting cancer behaviour
KR102923761B1 (ko) * 2022-10-13 2026-02-04 인하대학교 산학협력단 cfDNA의 구조 변이 서열 검출을 통한 미세잔존질환 진단 방법
CN117012274B (zh) * 2023-10-07 2024-01-16 北京智因东方转化医学研究中心有限公司 基于高通量测序识别基因缺失的装置

Family Cites Families (48)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EA005140B1 (ru) 1999-04-02 2004-12-30 Корикса Корпорейшн Соединения и способы для лечения и диагностики рака легкого
US20030219765A1 (en) 2000-03-23 2003-11-27 Jose Costa Methods for evaluating cancer risk
US20030211522A1 (en) 2002-01-18 2003-11-13 Landes Gregory M. Methods for fetal DNA detection and allele quantitation
EP1509619B1 (en) 2002-05-10 2012-04-04 City of Hope Pyrophosphorolysis activated polymerization (pap)
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
US20060188889A1 (en) * 2003-11-04 2006-08-24 Christopher Burgess Use of differentially expressed nucleic acid sequences as biomarkers for cancer
EP1599608A4 (en) 2003-03-05 2007-07-18 Genetic Technologies Ltd Identification of fetal DNA and fetal cell marker in maternal plasma or serum
PL201608B1 (pl) 2003-06-13 2009-04-30 Cezary Cybulski Sposób i zestaw do wykrywania wysokiej genetycznie uwarunkowanej predyspozycji do raka prostaty oraz zastosowanie zmiany germinalnej w obrębie genu NBS1
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
WO2005108621A1 (en) 2004-04-30 2005-11-17 Yale University Methods and compositions for cancer diagnosis
US7645576B2 (en) * 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
EP3591068A1 (en) 2006-02-02 2020-01-08 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
WO2008024009A1 (en) 2006-08-15 2008-02-28 Institut Molekulyarnoi Genetiki Rossiiskoi Akademii Nauk (Img Ran) Transcriptional level of a timp3 gene in the form of a diagnosis marker of a non-small cell carcinoma of lung
JP2010527603A (ja) 2007-05-25 2010-08-19 ディコーデ ジェネテクス イーエイチエフ 乳癌のリスクアセスメント、診断、予後診断および治療における使用のためのマーカーとしてのCHR5p12および10q26上の遺伝的変異
PL2557520T3 (pl) * 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
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
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
CA3069082C (en) * 2008-09-20 2022-03-22 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
WO2010053980A2 (en) * 2008-11-04 2010-05-14 The Johns Hopkins University Dna integrity assay (dia) for cancer diagnostics, using confocal fluorescence spectroscopy
US20100136560A1 (en) 2008-12-02 2010-06-03 The Johns Hopkins University Integrated Analyses of Breast and Colorectal Cancers
WO2010091046A2 (en) * 2009-02-03 2010-08-12 President & Fellows Of Harvard College Systems and methods for high throughput, high fidelity, single molecule nucleic acid sequencing using time multiplexed excitation
US20120021428A1 (en) 2009-03-31 2012-01-26 Marcus Otte Method for diagnosis of cancer and monitoring of cancer treatments
US20120208711A1 (en) 2009-10-02 2012-08-16 Centre For Addiction And Mental Health Method for Analysis of DNA Methylation Profiles of Cell-Free Circulating DNA in Bodily Fluids
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
EP3783110B1 (en) 2009-11-05 2022-11-23 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
GB0922006D0 (en) 2009-12-17 2010-02-03 Genome Res Ltd Diagnostic
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
EP2370599B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Method for determining copy number variations
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor 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
CN105243295B (zh) 2010-11-30 2018-08-17 香港中文大学 与癌症相关的遗传或分子畸变的检测
AU2011373694A1 (en) 2011-07-26 2013-05-02 Verinata Health, Inc. Method for determining the presence or absence of different aneuploidies in a sample
JP6073902B2 (ja) 2011-10-06 2017-02-01 セクエノム, インコーポレイテッド 遺伝的変異の非侵襲的評価のための方法およびプロセス
WO2013060762A1 (en) * 2011-10-25 2013-05-02 Roche Diagnostics Gmbh Method for diagnosing a disease based on plasma-dna distribution
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
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
WO2013138510A1 (en) 2012-03-13 2013-09-19 Patel Abhijit Ajit 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
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
EP2959016A4 (en) 2013-02-21 2016-10-12 Toma Biosciences Inc METHOD, COMPOSITIONS AND NUCLEIC ACID ANALYSIS KITS
WO2014145078A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
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
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
EP4358097A1 (en) 2014-07-25 2024-04-24 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

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