ES2659487T3 - Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno - Google Patents
Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno Download PDFInfo
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- ES2659487T3 ES2659487T3 ES13757943.9T ES13757943T ES2659487T3 ES 2659487 T3 ES2659487 T3 ES 2659487T3 ES 13757943 T ES13757943 T ES 13757943T ES 2659487 T3 ES2659487 T3 ES 2659487T3
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- dna
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- fractional concentration
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Classifications
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- 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
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- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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- 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
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- Life Sciences & Earth Sciences (AREA)
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- Oncology (AREA)
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- Algebra (AREA)
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Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201261608623P | 2012-03-08 | 2012-03-08 | |
| US201261608623P | 2012-03-08 | ||
| US201261621451P | 2012-04-06 | 2012-04-06 | |
| US201261621451P | 2012-04-06 | ||
| PCT/IB2013/000312 WO2013132305A1 (en) | 2012-03-08 | 2013-03-08 | Size-based analysis of fetal dna fraction in maternal plasma |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2659487T3 true ES2659487T3 (es) | 2018-03-15 |
Family
ID=49114635
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES13757943.9T Active ES2659487T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
| ES17209781T Active ES2761624T3 (es) | 2012-03-08 | 2013-03-08 | Análisis de ADN basado en el tamaño para la clasificación del cáncer |
| ES17202838T Active ES2729504T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES17209781T Active ES2761624T3 (es) | 2012-03-08 | 2013-03-08 | Análisis de ADN basado en el tamaño para la clasificación del cáncer |
| ES17202838T Active ES2729504T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
Country Status (18)
| Country | Link |
|---|---|
| US (7) | US9892230B2 (enExample) |
| EP (10) | EP2823062B2 (enExample) |
| JP (7) | JP6073382B2 (enExample) |
| CN (3) | CN104254618B (enExample) |
| AU (4) | AU2013229186B2 (enExample) |
| CA (2) | CA3010254C (enExample) |
| CY (1) | CY1121828T1 (enExample) |
| DK (5) | DK2823062T5 (enExample) |
| ES (3) | ES2659487T3 (enExample) |
| HR (1) | HRP20191300T1 (enExample) |
| HU (1) | HUE044746T2 (enExample) |
| LT (1) | LT3301193T (enExample) |
| PL (1) | PL3301193T3 (enExample) |
| PT (1) | PT3301193T (enExample) |
| RS (1) | RS59073B1 (enExample) |
| SI (1) | SI3301193T1 (enExample) |
| SM (1) | SMT201900409T1 (enExample) |
| WO (1) | WO2013132305A1 (enExample) |
Families Citing this family (125)
| 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 |
| MX357692B (es) | 2009-11-06 | 2018-07-19 | Univ Hong Kong Chinese | Analisis genomico a base de tamaño. |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | 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 |
| 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 |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| 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 |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| BR112013020220B1 (pt) | 2011-02-09 | 2020-03-17 | Natera, Inc. | Método para determinar o estado de ploidia de um cromossomo em um feto em gestação |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | 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 |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | 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 |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2861856C (en) | 2012-01-20 | 2020-06-02 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | 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 |
| ES2902401T3 (es) * | 2012-05-21 | 2022-03-28 | Sequenom Inc | Métodos y procesos para la evaluación no invasiva de variaciones genéticas |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| 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 |
| US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| KR102393608B1 (ko) | 2012-09-04 | 2022-05-03 | 가던트 헬쓰, 인크. | 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법 |
| 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 |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3561072A1 (en) | 2012-12-10 | 2019-10-30 | 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 |
| EP4187543A1 (en) | 2013-04-03 | 2023-05-31 | 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 |
| EP3011051B1 (en) | 2013-06-21 | 2019-01-30 | Sequenom, Inc. | Method for non-invasive assessment 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 |
| BR112016007401B1 (pt) | 2013-10-04 | 2023-04-11 | Sequenom, Inc. | Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra |
| EP3495496B1 (en) | 2013-10-07 | 2020-11-25 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
| EP4227947A1 (en) | 2013-10-21 | 2023-08-16 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| KR20240038168A (ko) | 2013-11-07 | 2024-03-22 | 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 |
| EP3378952B1 (en) | 2013-12-28 | 2020-02-05 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
| 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 |
| EP3117011B1 (en) | 2014-03-13 | 2020-05-06 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| EP3134541B1 (en) | 2014-04-21 | 2020-08-19 | Natera, Inc. | Detecting copy number variations (cnv) of chromosomal segments in cancer |
| EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
| EP3521454A1 (en) | 2014-05-09 | 2019-08-07 | LifeCodexx AG | Detection of dna that originates from a specific cell-type and related methods |
| JP6659672B2 (ja) | 2014-05-30 | 2020-03-04 | ベリナタ ヘルス インコーポレイテッド | 胎児染色体部分異数性およびコピー数変動の検出 |
| US20180173846A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| 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 |
| WO2016011982A1 (zh) * | 2014-07-25 | 2016-01-28 | 深圳华大基因股份有限公司 | 确定生物样本中游离核酸比例的方法、装置及其用途 |
| WO2016019042A1 (en) * | 2014-07-30 | 2016-02-04 | 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 |
| WO2016094853A1 (en) | 2014-12-12 | 2016-06-16 | 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 |
| EP4012715B1 (en) | 2015-02-10 | 2025-09-24 | The Chinese University Of Hong Kong | 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 |
| US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
| EP4450636A3 (en) | 2015-05-18 | 2025-01-01 | Karius, Inc. | Compositions and methods for enriching populations of nucleic acids |
| WO2016189388A1 (en) | 2015-05-22 | 2016-12-01 | Nipd Genetics Ltd | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
| CN108026572B (zh) | 2015-07-23 | 2022-07-01 | 香港中文大学 | 游离dna的片段化模式的分析 |
| CA2998530A1 (en) * | 2015-09-11 | 2017-03-16 | Inserm (Institut National De La Sante Et De La Recherche Medicale) | Non-invasive methods for assessing genetic integrity of pluripotent stem cells |
| SG10202107693TA (en) * | 2015-09-22 | 2021-09-29 | Univ Hong Kong Chinese | Accurate quantification of fetal dna fraction by shallow-depth sequencing of maternal plasma dna |
| KR101848438B1 (ko) * | 2015-10-29 | 2018-04-13 | 바이오코아 주식회사 | 디지털 pcr을 이용한 산전진단 방법 |
| DK3168309T3 (da) | 2015-11-10 | 2020-06-22 | Eurofins Lifecodexx Gmbh | Detektion af føtale kromosomale aneuploidier under anvendelse af dna-regioner med forskellig metylering mellem fosteret og det gravide hunkøn |
| EP3889257A1 (en) | 2015-11-11 | 2021-10-06 | Resolution Bioscience, Inc. | High efficiency construction of dna libraries |
| JP2019507585A (ja) | 2015-12-17 | 2019-03-22 | ガーダント ヘルス， インコーポレイテッド | 無細胞ｄｎａの分析による腫瘍遺伝子コピー数を決定するための方法 |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| EP3433613A4 (en) | 2016-03-24 | 2020-05-13 | Biological Dynamics, Inc. | DISPOSABLE FLUID CARTRIDGE AND COMPONENTS |
| CN116987777A (zh) | 2016-03-25 | 2023-11-03 | 凯锐思公司 | 合成核酸掺入物 |
| RU2760913C2 (ru) | 2016-04-15 | 2021-12-01 | Натера, Инк. | Способы выявления рака легкого |
| EP3491560A1 (en) | 2016-07-27 | 2019-06-05 | Sequenom, Inc. | Genetic copy number alteration classifications |
| AU2017315769B2 (en) | 2016-08-25 | 2024-02-01 | Resolution Bioscience, Inc. | Methods for the detection of genomic copy changes in DNA samples |
| IL265769B2 (en) * | 2016-10-19 | 2023-12-01 | Univ Hong Kong Chinese | Estimation of gestational age using methylation and size profile of maternal plasma DNA |
| SG11201903509QA (en) | 2016-10-24 | 2019-05-30 | Univ Hong Kong Chinese | Methods and systems for tumor detection |
| GB201618485D0 (en) | 2016-11-02 | 2016-12-14 | Ucl Business Plc | Method of detecting tumour recurrence |
| CN109906276A (zh) | 2016-11-07 | 2019-06-18 | 格里尔公司 | 用于检测早期癌症中体细胞突变特征的识别方法 |
| WO2018099418A1 (en) | 2016-11-30 | 2018-06-07 | The Chinese University Of Hong Kong | Analysis of cell-free dna in urine and other samples |
| 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 |
| MY197535A (en) | 2017-01-25 | 2023-06-21 | Univ Hong Kong Chinese | Diagnostic applications using nucleic acid fragments |
| EP3596233B1 (en) | 2017-03-17 | 2022-05-18 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| EP3610034B1 (en) | 2017-04-12 | 2022-06-08 | Karius, Inc. | Sample preparation methods, systems and compositions |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| IL270445B2 (en) | 2017-05-08 | 2024-06-01 | Biological dynamics inc | Methods and systems for analyte information processing |
| DK3658684T3 (da) | 2017-07-26 | 2023-10-09 | Univ Hong Kong Chinese | Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer |
| TWI833715B (zh) | 2017-10-27 | 2024-03-01 | 美商奇諾診療公司 | 用於超低體積液體生物檢體之裝置、系統及方法 |
| US11168356B2 (en) * | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| US12084720B2 (en) | 2017-12-14 | 2024-09-10 | Natera, Inc. | Assessing graft suitability for transplantation |
| AU2018392601A1 (en) * | 2017-12-19 | 2020-07-30 | Xzom, Inc. | Methods and devices for detecting and quantifying cell-free DNA fragments |
| CN112041067A (zh) | 2017-12-19 | 2020-12-04 | 生物动力学公司 | 用于从生物样品中检测多种分析物的方法和装置 |
| WO2019161244A1 (en) | 2018-02-15 | 2019-08-22 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| WO2019178273A1 (en) * | 2018-03-13 | 2019-09-19 | Guardant Health, Inc. | Methods for the non-invasive detection and monitoring of therapeutic nucleic acid constructs |
| CA3082601A1 (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 |
| WO2019195196A1 (en) | 2018-04-02 | 2019-10-10 | Biological Dynamics, Inc. | Dielectric materials |
| WO2019195268A2 (en) | 2018-04-02 | 2019-10-10 | Grail, Inc. | Methylation markers and targeted methylation probe panels |
| US12024738B2 (en) | 2018-04-14 | 2024-07-02 | Natera, Inc. | Methods for cancer detection and monitoring |
| 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 |
| AU2019351130B2 (en) | 2018-09-27 | 2025-10-23 | GRAIL, Inc | Methylation markers and targeted methylation probe panel |
| WO2020104394A1 (en) | 2018-11-19 | 2020-05-28 | 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 |
| ES2968457T3 (es) | 2018-12-19 | 2024-05-09 | Univ Hong Kong Chinese | Características de los extremos del ADN extracelular circulante |
| US11929148B2 (en) | 2019-03-13 | 2024-03-12 | Grail, Llc | Systems and methods for enriching for cancer-derived fragments using fragment size |
| EP3947717A4 (en) | 2019-03-25 | 2022-12-28 | The Chinese University Of Hong Kong | DETERMINATION OF LINEAR AND ROUND SHAPES OF CIRCULATION 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 |
| EP4020484A4 (en) * | 2019-08-19 | 2023-08-30 | Green Cross Genome Corporation | METHOD FOR DETECTING A CHROMOSOME ABNORMALITY USING INFORMATION CONCERNING THE DISTANCE BETWEEN NUCLEIC ACID FRAGMENTS |
| CA3153350A1 (en) * | 2019-10-16 | 2021-04-22 | Barbara ANDRE | Determination of nucleic acid sequence concentrations |
| AU2020391488A1 (en) | 2019-11-27 | 2022-06-09 | GRAIL, Inc | Systems and methods for evaluating longitudinal biological feature data |
| CA3164433A1 (en) * | 2020-02-05 | 2021-08-12 | Yuk-Ming Dennis Lo | Molecular analyses using long cell-free fragments in pregnancy |
| 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 |
| EP4359562A1 (en) | 2021-06-21 | 2024-05-01 | 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 |
Family Cites Families (109)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6440706B1 (en) | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
| ATE444532T1 (de) | 1999-10-13 | 2009-10-15 | Sequenom Inc | Verfahren zur identifizierung von polymorphen genetischen markern |
| 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 |
| KR20030088464A (ko) | 2001-03-23 | 2003-11-19 | 진셀 소시에테 아노님 | 2본쇄 ｄｎａ 표적 서열을 3중 나선 상호작용에 의해 정제및 검출하는 방법 |
| KR100824491B1 (ko) | 2001-10-05 | 2008-04-22 | 콤비네이토릭스, 인코포레이티드 | 면역염증 질환의 치료를 위한 조합 |
| US20030180765A1 (en) | 2002-02-01 | 2003-09-25 | The Johns Hopkins University | Digital amplification for detection of mismatch repair deficient tumor cells |
| CA2477761A1 (en) | 2002-03-01 | 2003-09-12 | 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 |
| JP2006512924A (ja) | 2002-08-15 | 2006-04-20 | ジェンザイム・コーポレーション | 脳内皮細胞発現パターン |
| US7704687B2 (en) | 2002-11-15 | 2010-04-27 | The Johns Hopkins University | Digital karyotyping |
| EP1601785A4 (en) | 2003-02-28 | 2007-02-07 | Ravgen Inc | METHOD FOR DETECTING GENETIC DISEASES |
| EP1599608A4 (en) | 2003-03-05 | 2007-07-18 | Genetic Technologies Ltd | Identification of fetal DNA and fetal cell marker 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 |
| CN101985619B (zh) | 2003-10-08 | 2014-08-20 | 波士顿大学信托人 | 染色体异常的产前诊断方法 |
| ATE435301T1 (de) | 2003-10-16 | 2009-07-15 | Sequenom Inc | Nicht invasiver nachweis fötaler genetischer merkmale |
| US20050221341A1 (en) | 2003-10-22 | 2005-10-06 | Shimkets Richard A | Sequence-based karyotyping |
| US20070212689A1 (en) | 2003-10-30 | 2007-09-13 | Bianchi Diana W | Prenatal Diagnosis Using Cell-Free Fetal DNA in Amniotic Fluid |
| 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 |
| US7645576B2 (en) | 2005-03-18 | 2010-01-12 | The Chinese University Of Hong Kong | Method for the detection of chromosomal aneuploidies |
| DE602005009324D1 (de) | 2005-04-06 | 2008-10-09 | Maurice Stroun | Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf |
| US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| WO2007100911A2 (en) | 2006-02-28 | 2007-09-07 | University Of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| BRPI0811906A2 (pt) | 2007-05-24 | 2014-11-18 | Apceth Gmbh & Co Kg | Composições e métodos relacionados a célula-tronco cd34 |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| EP3892736A1 (en) | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| US20090053719A1 (en) * | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
| CN107028981B (zh) | 2007-09-19 | 2021-04-20 | 普拉里斯坦有限公司 | 来自脂肪或胎盘组织的粘附细胞及其在治疗中的用途 |
| 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 |
| HUE031848T2 (en) | 2008-09-20 | 2017-08-28 | Univ Leland Stanford Junior | Non-invasive diagnosis of fetal aneuploidy by sequencing |
| US8835110B2 (en) * | 2008-11-04 | 2014-09-16 | The Johns Hopkins University | DNA integrity assay (DIA) for cancer diagnostics, using confocal fluorescence spectroscopy |
| WO2010112316A1 (en) | 2009-03-31 | 2010-10-07 | Oridis Biomed Forschungs- Und Entwicklungs Gmbh | Method for diagnosis of cancer and monitoring of cancer treatments |
| 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 |
| HUE061110T2 (hu) | 2009-11-05 | 2023-05-28 | Univ Hong Kong Chinese | Magzati genomelemzés anyai biológiai mintából |
| MX357692B (es) | 2009-11-06 | 2018-07-19 | Univ Hong Kong Chinese | Analisis genomico a base de tamaño. |
| WO2011060240A1 (en) | 2009-11-12 | 2011-05-19 | Genzyme Corporation | Copy number analysis of genetic locus |
| EP4074838A1 (en) | 2010-01-19 | 2022-10-19 | Verinata Health, Inc. | Novel protocol for preparing sequencing libraries |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| WO2011090556A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| US10662474B2 (en) | 2010-01-19 | 2020-05-26 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
| EP2536854B1 (en) | 2010-02-18 | 2017-07-19 | The Johns Hopkins University | Personalized tumor biomarkers |
| ES2647612T3 (es) | 2010-06-04 | 2017-12-22 | Chronix Biomedical | Biomarcadores de ácidos nucleicos en circulación asociados al cáncer de próstata |
| EP2426217A1 (en) | 2010-09-03 | 2012-03-07 | Centre National de la Recherche Scientifique (CNRS) | Analytical methods for cell free nucleic acids and applications |
| SG190344A1 (en) | 2010-11-30 | 2013-06-28 | Univ Hong Kong Chinese | Detection of genetic or molecular aberrations 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 |
| CA3067612A1 (en) | 2011-09-22 | 2013-03-28 | Lineage Biosciences, Inc. | Compositions and methods for analyzing heterogeneous samples |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | 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 |
| WO2013086464A1 (en) | 2011-12-07 | 2013-06-13 | 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 |
| EP2882867A1 (en) | 2012-08-10 | 2015-06-17 | The Broad Institute, Inc. | Methods and apparatus for analyzing and quantifying dna alterations in cancer |
| KR102393608B1 (ko) | 2012-09-04 | 2022-05-03 | 가던트 헬쓰, 인크. | 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법 |
| 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 |
| 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 |
| FI4056712T3 (fi) | 2012-09-20 | 2024-08-29 | Univ Hong Kong Chinese | Kasvaimen metyloomin nonivasiivinen määrittäminen plasmasta |
| US20140287937A1 (en) | 2013-02-21 | 2014-09-25 | Toma Biosciences, Inc. | Methods for assessing cancer |
| EP3409791B1 (en) | 2013-03-15 | 2021-06-30 | Verinata Health, Inc. | Generating cell-free dna libraries directly from blood |
| EP4253558B1 (en) | 2013-03-15 | 2025-07-02 | The Board of Trustees of the Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| EP3968023B1 (en) | 2013-08-19 | 2025-10-08 | Invitae Corporation | Assays for single molecule detection and use thereof |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| EP4227947A1 (en) | 2013-10-21 | 2023-08-16 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| GB201319779D0 (en) | 2013-11-08 | 2013-12-25 | Cartagenia N V | Genetic analysis method |
| US10465238B2 (en) | 2013-12-19 | 2019-11-05 | 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 |
| EP3134541B1 (en) | 2014-04-21 | 2020-08-19 | Natera, Inc. | Detecting copy number variations (cnv) of chromosomal segments in cancer |
| WO2015175705A1 (en) | 2014-05-13 | 2015-11-19 | Board Of Regents, The University Of Texas System | Gene mutations and copy number alterations of egfr, kras and met |
| JP6659672B2 (ja) | 2014-05-30 | 2020-03-04 | ベリナタ ヘルス インコーポレイテッド | 胎児染色体部分異数性およびコピー数変動の検出 |
| JP2017522866A (ja) | 2014-06-26 | 2017-08-17 | １０エックス ジェノミクス， インコーポレイテッド | 核酸配列の分析 |
| US11062789B2 (en) | 2014-07-18 | 2021-07-13 | The Chinese University Of Hong Kong | Methylation pattern analysis of tissues in a DNA mixture |
| 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 |
| DK3194612T3 (da) | 2014-08-22 | 2024-10-14 | Resolution Bioscience Inc | Fremgangsmåder til kvantitativ genetisk analyse af cellefrit dna |
| 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 |
| PL3191993T3 (pl) | 2014-09-12 | 2022-06-20 | Illumina Cambridge Limited | Wykrywanie ekspansji powtórzeń na podstawie danych sekwencjonowania krótkich odczytów |
| 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 |
| WO2016077709A1 (en) | 2014-11-14 | 2016-05-19 | Liquid Genomics, Inc. | Use of circulating cell-free rna for diagnosis and/or monitoring cancer |
| WO2016094853A1 (en) | 2014-12-12 | 2016-06-16 | 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 |
| ES2923602T3 (es) | 2014-12-31 | 2022-09-28 | Guardant Health Inc | Detección y tratamiento de enfermedades que muestran heterogeneidad celular de enfermedad y sistemas y métodos para comunicar los resultados de las pruebas |
| 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 |
| EP4012715B1 (en) | 2015-02-10 | 2025-09-24 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| WO2016141169A1 (en) | 2015-03-03 | 2016-09-09 | Caris Mpi, Inc. | Molecular profiling for cancer |
| CA2983833C (en) | 2015-05-01 | 2024-05-14 | Guardant Health, Inc. | Diagnostic methods |
| US11243212B2 (en) | 2015-05-06 | 2022-02-08 | Seracare Life Sciences, Inc. | Liposomal preparations for non-invasive-prenatal or cancer screening |
| US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
| EP3636777A1 (en) | 2015-07-13 | 2020-04-15 | Agilent Technologies Belgium NV | System and methodology for the analysis of genomic data obtained from a subject |
| CA2993267A1 (en) | 2015-08-07 | 2017-02-16 | Dana-Farber Cancer Institute, Inc. | Genetic abnormalities in plasma cell dyscrasias |
| US11756655B2 (en) | 2015-10-09 | 2023-09-12 | 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 |
| JP2019507585A (ja) | 2015-12-17 | 2019-03-22 | ガーダント ヘルス， インコーポレイテッド | 無細胞ｄｎａの分析による腫瘍遺伝子コピー数を決定するための方法 |
| 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 |
| EP4043581A1 (en) | 2016-05-27 | 2022-08-17 | Sequenom, Inc. | Method for generating a paralog assay system |
| SG11201903509QA (en) | 2016-10-24 | 2019-05-30 | Univ Hong Kong Chinese | Methods and systems for tumor detection |
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