ES2994426T3 - Non-invasive determination of methylome of tumor from plasma - Google Patents
Non-invasive determination of methylome of tumor from plasma Download PDFInfo
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- ES2994426T3 ES2994426T3 ES22171427T ES22171427T ES2994426T3 ES 2994426 T3 ES2994426 T3 ES 2994426T3 ES 22171427 T ES22171427 T ES 22171427T ES 22171427 T ES22171427 T ES 22171427T ES 2994426 T3 ES2994426 T3 ES 2994426T3
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| US201361830571P | 2013-06-03 | 2013-06-03 |
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| ES2994426T3 true ES2994426T3 (en) | 2025-01-23 |
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| ES13838770T Active ES2665273T5 (es) | 2012-09-20 | 2013-09-20 | Determinación no invasiva de metiloma del feto o tumor de plasma |
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Families Citing this family (94)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101153336B (zh) | 2006-09-27 | 2011-09-07 | 香港中文大学 | 检测dna甲基化程度的方法和试剂盒 |
| US10179937B2 (en) * | 2014-04-21 | 2019-01-15 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| 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 |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| HRP20241142T1 (hr) | 2012-09-20 | 2024-11-22 | The Chinese University Of Hong Kong | Neinvazivno određivanje metiloma tumora iz plazme |
| 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 |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| ES2685893T3 (es) * | 2013-07-30 | 2018-10-15 | Bgi Genomics Co., Limited | Método para determinar la composición de ácidos nucleicos de una mezcla de ácidos nucleicos |
| 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 |
| WO2015126840A1 (en) * | 2014-02-18 | 2015-08-27 | Bionano Genomics, Inc. | Improved methods of determining nucleic acid structural information |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| AU2015257654A1 (en) | 2014-05-09 | 2016-11-10 | 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 |
| WO2016010401A1 (ko) * | 2014-07-18 | 2016-01-21 | 에스케이텔레콘 주식회사 | 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 |
| ES2890136T3 (es) * | 2014-07-18 | 2022-01-17 | Univ Hong Kong Chinese | Análisis de patrones de metilación de tejidos en una mezcla de ADN |
| US20170211143A1 (en) | 2014-07-25 | 2017-07-27 | 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 |
| 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 |
| WO2016127944A1 (en) * | 2015-02-10 | 2016-08-18 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| WO2017012544A1 (en) | 2015-07-20 | 2017-01-26 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| EP3967775B1 (en) * | 2015-07-23 | 2023-08-23 | The Chinese University Of Hong Kong | Analysis of fragmentation patterns of cell-free dna |
| EP3334843A4 (en) | 2015-08-12 | 2019-01-02 | The Chinese University Of Hong Kong | Single-molecule sequencing of plasma dna |
| 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 |
| US10260088B2 (en) * | 2015-10-30 | 2019-04-16 | New England Biolabs, Inc. | Compositions and methods for analyzing modified nucleotides |
| EP3374521B1 (en) * | 2015-11-09 | 2023-01-04 | Biora Therapeutics, Inc. | Methods for determining the origin of dna molecules |
| 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 |
| US11319593B2 (en) | 2015-12-17 | 2022-05-03 | Illumina, Inc. | Distinguishing methylation levels in complex biological samples |
| US11335463B2 (en) * | 2016-02-02 | 2022-05-17 | Guardant Health, Inc. | Cancer evolution detection and diagnostic |
| US11514289B1 (en) | 2016-03-09 | 2022-11-29 | Freenome Holdings, Inc. | Generating machine learning models using genetic data |
| BR112018072536A2 (pt) | 2016-05-03 | 2019-03-26 | University Health Network | métodos de captura de dna metilatado de célula livre e usos dos mesmos |
| US12300356B2 (en) | 2016-05-04 | 2025-05-13 | Queen's University At Kingston | Cell-free detection of methylated tumour DNA |
| DK3464637T3 (da) | 2016-05-30 | 2021-07-26 | Univ Hong Kong Chinese | Detektering af hæmatologiske forstyrrelser ved hjælp af cellefrit DNA i blod |
| EP3472358B1 (en) * | 2016-06-16 | 2021-08-18 | The Johns Hopkins University | Methods and system for epigenetic analysis |
| WO2018036537A1 (zh) * | 2016-08-24 | 2018-03-01 | 中国科学院上海生命科学研究院 | Cmd1酶催化的5-甲基胞嘧啶核酸的新修饰及其应用 |
| EP3529377B1 (en) * | 2016-10-19 | 2023-04-05 | The Chinese University Of Hong Kong | Gestational age assessment by methylation and size profiling of maternal plasma dna |
| CN110100013A (zh) | 2016-10-24 | 2019-08-06 | 香港中文大学 | 用于肿瘤检测的方法和系统 |
| US11435339B2 (en) * | 2016-11-30 | 2022-09-06 | The Chinese University Of Hong Kong | Analysis of cell-free DNA in urine |
| US20190309374A1 (en) * | 2016-12-13 | 2019-10-10 | Bellwether Bio, Inc. | Determining a physiological condition in an individual by analyzing cell-free dna fragment endpoints in a biological sample |
| WO2018132400A1 (en) * | 2017-01-11 | 2018-07-19 | Quest Diagnostics Investments Llc | Method for non-invasive prenatal screening for aneuploidy |
| RS65618B1 (sr) * | 2017-01-24 | 2024-07-31 | Bgi Genomics Co Ltd | Postupak za utvrđivanje frakcije nukleinskih kiselina bez ćelija iz prethodno određenog izvora u biološkom uzorku |
| US10633713B2 (en) | 2017-01-25 | 2020-04-28 | The Chinese University Of Hong Kong | Diagnostic applications using nucleic acid fragments |
| CN107247873B (zh) * | 2017-03-29 | 2020-04-14 | 电子科技大学 | 一种差异甲基化位点识别方法 |
| JP7368235B2 (ja) * | 2017-05-12 | 2023-10-24 | プレジデント アンド フェローズ オブ ハーバード カレッジ | ユニバーサル早期がん診断 |
| AU2018300157A1 (en) * | 2017-07-12 | 2020-02-27 | Ande Corporation | Pattern recognition system |
| US12227737B2 (en) | 2017-07-12 | 2025-02-18 | University Health Network | Cancer detection and classification using methylome analysis |
| US12031184B2 (en) | 2017-07-12 | 2024-07-09 | University Health Network | Cancer detection and classification using methylome analysis |
| IL272030B2 (en) * | 2017-07-26 | 2025-03-01 | Univ Hong Kong Chinese | Enhancement of cancer screening using cell-free viral nucleic acids |
| US20200263170A1 (en) | 2017-09-14 | 2020-08-20 | Grail, Inc. | Methods for preparing a sequencing library from single-stranded dna |
| US11851650B2 (en) | 2017-09-28 | 2023-12-26 | Grail, Llc | Enrichment of short nucleic acid fragments in sequencing library preparation |
| US11168356B2 (en) * | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| EP3765637A1 (en) | 2018-03-13 | 2021-01-20 | Grail, Inc. | Anomalous fragment detection and classification |
| EP3766076A4 (en) | 2018-03-15 | 2021-12-29 | Grail, Inc. | Tissue-specific methylation marker |
| EP3775198A4 (en) | 2018-04-02 | 2022-01-05 | Grail, Inc. | METHYLATION MARKERS AND TARGETED METHYLATION PROBE PANELS |
| US11681953B2 (en) * | 2018-04-13 | 2023-06-20 | Freenome Holdings, Inc. | Machine learning implementation for multi-analyte assay development and testing |
| US20210104297A1 (en) * | 2018-04-16 | 2021-04-08 | Grail, Inc. | Systems and methods for determining tumor fraction in cell-free nucleic acid |
| WO2019209884A1 (en) | 2018-04-23 | 2019-10-31 | Grail, Inc. | Methods and systems for screening for conditions |
| US11932899B2 (en) * | 2018-06-07 | 2024-03-19 | 10X Genomics, Inc. | Methods and systems for characterizing nucleic acid molecules |
| CN109448789A (zh) * | 2018-09-17 | 2019-03-08 | 上海派森诺生物科技股份有限公司 | 一种基于perl语言的种群特异SNP位点的自动化分析方法 |
| EP3856903A4 (en) | 2018-09-27 | 2022-07-27 | Grail, LLC | METHYLATION MARKER AND TARGETED METHYLATION PROBE PANEL |
| CN109295230A (zh) * | 2018-10-24 | 2019-02-01 | 福建翊善生物科技有限公司 | 一种基于ctDNA的多基因联合突变检测评估肿瘤动态变化的方法 |
| GB2615955B (en) | 2018-11-21 | 2023-11-22 | Agilent Technologies Inc | Methods for targeted nucleic acid library formation |
| SG11202106114XA (en) * | 2018-12-19 | 2021-07-29 | Univ Hong Kong Chinese | Cell-free dna end characteristics |
| US12234514B2 (en) | 2018-12-21 | 2025-02-25 | Grail, Inc. | Source of origin deconvolution based on methylation fragments in cell-free DNA samples |
| EP3921445B1 (en) | 2019-02-05 | 2024-09-04 | Grail, Inc. | Detecting cancer, cancer tissue of origin, and/or a cancer cell type |
| WO2020163410A1 (en) | 2019-02-05 | 2020-08-13 | Grail, Inc. | Detecting cancer, cancer tissue of origin, and/or a cancer cell type |
| AU2020246747A1 (en) | 2019-03-25 | 2021-08-26 | Grail, Inc. | Determining linear and circular forms of circulating nucleic acids |
| US11773450B2 (en) | 2019-04-03 | 2023-10-03 | Grail, Llc | Methylation-based false positive duplicate marking reduction |
| SG11202112246UA (en) * | 2019-05-03 | 2021-12-30 | Univ Cornell | Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes |
| WO2021034034A1 (ko) * | 2019-08-19 | 2021-02-25 | 주식회사 녹십자지놈 | 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법 |
| KR102452413B1 (ko) * | 2019-08-19 | 2022-10-11 | 주식회사 지씨지놈 | 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법 |
| GB201915469D0 (en) | 2019-10-24 | 2019-12-11 | Univ London | Cancer detection methods |
| 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 |
| JP7732991B2 (ja) | 2020-01-31 | 2025-09-02 | アジレント・テクノロジーズ・インク | 標的化された核酸捕捉のためのシステムおよび方法 |
| EP4103740A1 (en) * | 2020-02-10 | 2022-12-21 | Palogen, Inc. | Nanopore device and methods of detecting and classifying charged particles using same |
| 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 |
| AU2021228737A1 (en) * | 2020-02-28 | 2022-09-22 | Grail, LLC. | Identifying methylation patterns that discriminate or indicate a cancer condition |
| CN112662764A (zh) * | 2020-03-17 | 2021-04-16 | 博尔诚（北京）科技有限公司 | 一种检测11种癌症的探针组合物 |
| RU2738675C1 (ru) * | 2020-07-28 | 2020-12-15 | Федеральное государственное автономное образовательное учреждение высшего образования "Белгородский государственный национальный исследовательский университет" (НИУ "БелГУ") | Способ прогнозирования риска развития преэклампсии у женщин без отягощенного семейного анамнеза с учетом генетических факторов |
| CN116848262A (zh) * | 2020-11-19 | 2023-10-03 | 纽克莱克斯有限公司 | 使用限制性酶和高通量测序检测dna样品中的甲基化改变 |
| JP2024500872A (ja) * | 2020-12-17 | 2024-01-10 | プレジデント アンド フェローズ オブ ハーバード カレッジ | 胚外メチル化ＣｐＧアイランドを用いたがん検出の方法 |
| CN112813148A (zh) * | 2021-02-02 | 2021-05-18 | 博淼生物科技（北京）有限公司 | 飞行时间质谱检测5-羟甲基胞嘧啶的方法 |
| CN118302816A (zh) * | 2021-09-28 | 2024-07-05 | 行动基因(智财)有限公司 | 甲基化生物标记选择装置及方法 |
| KR20230059423A (ko) * | 2021-10-26 | 2023-05-03 | 주식회사 지씨지놈 | 메틸화된 무세포 핵산을 이용한 암 진단 및 암 종 예측방법 |
| WO2023079047A1 (en) * | 2021-11-04 | 2023-05-11 | Universal Diagnostics S.A | Systems and methods for preparing biological samples for genetic sequencing |
| EP4476358A4 (en) | 2022-02-07 | 2025-07-16 | Centre For Novostics | FRAGMENTATION TO MEASURE METHYLATION AND DISEASE |
| US20240150840A1 (en) * | 2022-02-22 | 2024-05-09 | Flagship Pioneering Innovations Vi, Llc | Intra-individual analysis for presence of health conditions |
| CN115064211B (zh) * | 2022-08-15 | 2023-01-24 | 臻和(北京)生物科技有限公司 | 一种基于全基因组甲基化测序的ctDNA预测方法及装置 |
| CN115612723B (zh) * | 2022-09-26 | 2023-07-14 | 广州女娲生命科技有限公司 | 植入前胚胎的筛选方法 |
| 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 |
| CN118737268A (zh) * | 2023-05-04 | 2024-10-01 | 杭州圣庭医疗科技有限公司 | 一种鉴定肿瘤组织来源的试剂盒的数据分析方法 |
| CN117025753A (zh) * | 2023-08-15 | 2023-11-10 | 广州女娲生命科技有限公司 | 检测染色体变异的方法和装置 |
| CN117079822B (zh) * | 2023-10-17 | 2024-01-02 | 北京大学第三医院（北京大学第三临床医学院） | 一种妊娠早中期四因子预测胎儿脑损伤的系统 |
Family Cites Families (28)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6927028B2 (en) | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
| DE60207979T2 (de) † | 2002-03-05 | 2006-09-28 | Epigenomics Ag | Verfahren und Vorrichtung zur Bestimmung der Gewebespezifität von freier DNA in Körperflüssigkeiten |
| PL376971A1 (pl) † | 2002-11-19 | 2006-01-23 | Amgen, Inc. | Amplifikowane geny związane z rakiem |
| US20060183128A1 (en) † | 2003-08-12 | 2006-08-17 | Epigenomics Ag | Methods and compositions for differentiating tissues for cell types using epigenetic markers |
| DE10348407A1 (de) | 2003-10-17 | 2005-05-19 | Widschwendter, Martin, Prof. | Prognostische und diagnostische Marker für Zell-proliferative Erkrankungen von Brustgeweben |
| CA2902980A1 (en) * | 2004-03-08 | 2005-09-29 | Rubicon Genomics, Inc. | Methods and compositions for generating and amplifying dna libraries for sensitive detection and analysis of dna methylation |
| JP2008545418A (ja) | 2005-05-27 | 2008-12-18 | ジョン ウェイン キャンサー インスティチュート | 癌の診断、予後診断、および治療のための遊離循環ｄｎａの使用 |
| US7901884B2 (en) * | 2006-05-03 | 2011-03-08 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring |
| US7754428B2 (en) | 2006-05-03 | 2010-07-13 | The Chinese University Of Hong Kong | Fetal methylation markers |
| CN101153336B (zh) * | 2006-09-27 | 2011-09-07 | 香港中文大学 | 检测dna甲基化程度的方法和试剂盒 |
| EP2173897A2 (en) | 2007-06-19 | 2010-04-14 | Oncomethylome Sciences SA | Improved urine sample collecting and processing |
| CA3076142C (en) | 2007-07-23 | 2023-01-03 | The Chinese University Of Hong Kong | Analyzing tumor dna in a cell-free sample |
| JP4347372B2 (ja) | 2007-08-10 | 2009-10-21 | トヨタ自動車株式会社 | 静電塗装装置 |
| US20110028333A1 (en) * | 2009-05-01 | 2011-02-03 | Brown University | Diagnosing, prognosing, and early detection of cancers by dna methylation profiling |
| US8563242B2 (en) * | 2009-08-11 | 2013-10-22 | The Chinese University Of Hong Kong | Method for detecting chromosomal aneuploidy |
| CA2775671A1 (en) * | 2009-10-02 | 2011-04-07 | Centre For Addiction And Mental Health | Method for analysis of dna methylation profiles of cell-free circulating dna in bodily fluids |
| MX2012005214A (es) * | 2009-11-05 | 2012-09-21 | Sequenom Inc | Analisis genomico fetal de muestra biologica materna. |
| AU2010317019B2 (en) | 2009-11-06 | 2014-10-30 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| CA2786564A1 (en) * | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| EA023565B1 (ru) * | 2010-01-26 | 2016-06-30 | ЭнАйПиДи ДЖЕНЕТИКС ЛТД. | Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода |
| AU2011249015B2 (en) † | 2010-04-29 | 2016-05-26 | The Regents Of The University Of California | Pathway recognition algorithm using data integration on genomic models (PARADIGM) |
| GB201007944D0 (en) * | 2010-05-12 | 2010-06-30 | Univ Aberystwyth | Methods |
| DK2576832T3 (en) | 2010-05-25 | 2016-06-20 | Univ Johns Hopkins | CONFIGURATIONS AND METHODS FOR DETECTION OF neoplasia |
| CN103069006A (zh) * | 2010-07-23 | 2013-04-24 | 艾索特里克斯遗传实验室有限责任公司 | 区别表达的胚胎或母源基因组区的鉴定及其用途 |
| EP2596132A4 (en) * | 2010-07-23 | 2013-12-18 | Harvard College | METHOD FOR DETECTING SIGNS FOR ILLNESS OR SUFFERING IN BODY FLUIDS |
| WO2012031329A1 (en) * | 2010-09-10 | 2012-03-15 | Murdoch Childrens Research Institute | Assay for detection and monitoring of cancer |
| TWI786520B (zh) † | 2010-11-30 | 2022-12-11 | 香港中文大學 | 與癌症有關之基因或分子變異之檢測 |
| HRP20241142T1 (hr) * | 2012-09-20 | 2024-11-22 | The Chinese University Of Hong Kong | Neinvazivno određivanje metiloma tumora iz plazme |
-
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