EA038374B1 - Способ анализа биологического образца организма для выявления хромосомных делеций или амплификаций, ассоциированных с раком - Google Patents
Способ анализа биологического образца организма для выявления хромосомных делеций или амплификаций, ассоциированных с раком Download PDFInfo
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- EA038374B1 EA038374B1 EA201300649A EA201300649A EA038374B1 EA 038374 B1 EA038374 B1 EA 038374B1 EA 201300649 A EA201300649 A EA 201300649A EA 201300649 A EA201300649 A EA 201300649A EA 038374 B1 EA038374 B1 EA 038374B1
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Families Citing this family (153)
| 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 |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | 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 |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| EP3892736A1 (en) | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| ES2620431T3 (es) | 2008-08-04 | 2017-06-28 | Natera, Inc. | Métodos para la determinación de alelos y de ploidía |
| WO2011041485A1 (en) | 2009-09-30 | 2011-04-07 | Gene Security Network, Inc. | Methods for non-invasive prenatal ploidy calling |
| US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US10662474B2 (en) | 2010-01-19 | 2020-05-26 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| EP2526415B1 (en) | 2010-01-19 | 2017-05-03 | Verinata Health, Inc | Partition defined detection methods |
| WO2011090556A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| EP4074838A1 (en) | 2010-01-19 | 2022-10-19 | Verinata Health, Inc. | Novel protocol for preparing sequencing libraries |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| CA3207599A1 (en) | 2010-05-18 | 2011-11-24 | 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 |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | 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 |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
| 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 |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
| SG190344A1 (en) | 2010-11-30 | 2013-06-28 | Univ Hong Kong Chinese | Detection of genetic or molecular aberrations associated with cancer |
| BR112013016193B1 (pt) | 2010-12-22 | 2019-10-22 | Natera Inc | método ex vivo para determinar se um suposto pai é o pai biológico de um feto que está em gestação em uma gestante e relatório |
| 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 |
| EP2673380B1 (en) * | 2011-02-09 | 2018-12-12 | Bio-Rad Laboratories, Inc. | Analysis of nucleic acids |
| LT3567124T (lt) | 2011-04-12 | 2022-04-11 | Verinata Health, Inc. | Genominių frakcijų paskirstymas, naudojant polimorfizmo skaičiavimo rezultatus |
| US9411937B2 (en) * | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| WO2014014498A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a fetal genome |
| DK3246416T3 (da) | 2011-04-15 | 2024-09-02 | Univ Johns Hopkins | Sikkert sekventeringssystem |
| 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 |
| 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 |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US20160040229A1 (en) * | 2013-08-16 | 2016-02-11 | Guardant 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 |
| 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 |
| 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 |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| ES2886507T5 (es) | 2012-10-29 | 2024-11-15 | Univ Johns Hopkins | Prueba de Papanicolaou para cánceres de ovario y de endometrio |
| EP3561072A1 (en) | 2012-12-10 | 2019-10-30 | Resolution Bioscience, Inc. | Methods for targeted genomic analysis |
| US10643738B2 (en) * | 2013-01-10 | 2020-05-05 | The Chinese University Of Hong Kong | Noninvasive prenatal molecular karyotyping from maternal plasma |
| EP3597774A1 (en) | 2013-03-13 | 2020-01-22 | Sequenom, Inc. | Primers for dna methylation analysis |
| 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 |
| WO2014190286A2 (en) | 2013-05-24 | 2014-11-27 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9944998B2 (en) | 2013-07-25 | 2018-04-17 | Bio-Rad Laboratories, Inc. | Genetic assays |
| WO2015048535A1 (en) | 2013-09-27 | 2015-04-02 | Natera, Inc. | Prenatal diagnostic resting standards |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| US10851414B2 (en) * | 2013-10-18 | 2020-12-01 | Good Start Genetics, Inc. | Methods for determining carrier status |
| EP4227947A1 (en) * | 2013-10-21 | 2023-08-16 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| EP3378952B1 (en) | 2013-12-28 | 2020-02-05 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
| 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 |
| WO2015164432A1 (en) * | 2014-04-21 | 2015-10-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| 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 |
| 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 |
| WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20160048608A1 (en) | 2014-08-15 | 2016-02-18 | Good Start Genetics, Inc. | Systems and methods for genetic analysis |
| 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 |
| US11242559B2 (en) | 2015-01-13 | 2022-02-08 | The Chinese University Of Hong Kong | Method of nuclear DNA and mitochondrial DNA analysis |
| 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 |
| US10424396B2 (en) * | 2015-03-27 | 2019-09-24 | Sentieon Inc. | Computation pipeline of location-dependent variant calls |
| TW201643760A (zh) * | 2015-04-10 | 2016-12-16 | Social Welfare Organization Saiseikai Imp Gift Foundation Inc Saiseikai Suita Hospital | 判別肝疾病之疾病狀態之方法 |
| US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
| EP3739061B1 (en) | 2015-07-20 | 2022-03-23 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| 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 |
| JP6675164B2 (ja) * | 2015-07-28 | 2020-04-01 | 株式会社理研ジェネシス | 変異判定方法、変異判定プログラムおよび記録媒体 |
| WO2017027653A1 (en) | 2015-08-11 | 2017-02-16 | The Johns Hopkins University | Assaying ovarian cyst fluid |
| CN115433769A (zh) | 2015-08-12 | 2022-12-06 | 香港中文大学 | 血浆dna的单分子测序 |
| 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 |
| RU2760913C2 (ru) | 2016-04-15 | 2021-12-01 | Натера, Инк. | Способы выявления рака легкого |
| US10781490B2 (en) | 2016-05-30 | 2020-09-22 | The Chinese University Of Hong Kong | Detecting hematological disorders using cell-free DNA in blood |
| 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 |
| WO2018064486A1 (en) * | 2016-09-29 | 2018-04-05 | Counsyl, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| WO2018067517A1 (en) | 2016-10-04 | 2018-04-12 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| 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 |
| 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 |
| 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 |
| CA3049139A1 (en) | 2017-02-21 | 2018-08-30 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| EP3596233B1 (en) | 2017-03-17 | 2022-05-18 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| 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 |
| 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 |
| CN110741095A (zh) * | 2017-06-08 | 2020-01-31 | 南托米克斯有限责任公司 | 用于药物基因组学筛选的整合全组学方法 |
| DK3658684T3 (da) | 2017-07-26 | 2023-10-09 | Univ Hong Kong Chinese | Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer |
| CN111868260B (zh) | 2017-08-07 | 2025-02-21 | 约翰斯霍普金斯大学 | 用于评估和治疗癌症的方法和材料 |
| CN110021355B (zh) * | 2017-09-22 | 2021-05-04 | 深圳华大生命科学研究院 | 二倍体基因组测序片段的单倍体分型和变异检测方法和装置 |
| US11168356B2 (en) | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| TWI669618B (zh) * | 2017-11-24 | 2019-08-21 | 南韓商韓國美迪基因科技有限公司 | 預測疾病的方法及裝置以及計算每種疾病發生風險的加權分數的方法 |
| US12084720B2 (en) | 2017-12-14 | 2024-09-10 | Natera, Inc. | Assessing graft suitability for transplantation |
| 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 |
| AU2018392601A1 (en) * | 2017-12-19 | 2020-07-30 | Xzom, Inc. | Methods and devices for detecting and quantifying cell-free DNA fragments |
| WO2019161244A1 (en) | 2018-02-15 | 2019-08-22 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| US12027237B2 (en) | 2018-03-13 | 2024-07-02 | Grail, Llc | Anomalous fragment detection and classification |
| EP3766076A4 (en) | 2018-03-15 | 2021-12-29 | Grail, Inc. | Tissue-specific methylation marker |
| US12154661B2 (en) | 2018-03-22 | 2024-11-26 | The Regents Of The University Of Michigan | Method and apparatus for analysis of chromatin interaction data |
| WO2019195196A1 (en) | 2018-04-02 | 2019-10-10 | Biological Dynamics, Inc. | Dielectric materials |
| EP3776555A2 (en) | 2018-04-13 | 2021-02-17 | Grail, Inc. | Multi-assay prediction model for cancer detection |
| US12024738B2 (en) | 2018-04-14 | 2024-07-02 | Natera, Inc. | Methods for cancer detection and monitoring |
| TWI854979B (zh) | 2018-05-03 | 2024-09-11 | 香港中文大學 | 用於測量游離(cell-free)混合物之特性之經尺寸標記之偏好末端及取向感知分析 |
| US11482303B2 (en) | 2018-06-01 | 2022-10-25 | Grail, Llc | Convolutional neural network systems and methods for data classification |
| TW202013385A (zh) | 2018-06-07 | 2020-04-01 | 美商河谷控股Ip有限責任公司 | 基於差異的基因組之辨識分數 |
| CN112739828B (zh) * | 2018-06-11 | 2024-04-09 | 深圳华大生命科学研究院 | 确定待测样本类型的方法及系统 |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| AU2019356497B2 (en) * | 2018-10-08 | 2025-06-26 | Freenome Holdings, Inc. | Transcription factor profiling |
| US11581062B2 (en) | 2018-12-10 | 2023-02-14 | Grail, Llc | Systems and methods for classifying patients with respect to multiple cancer classes |
| ES2968457T3 (es) | 2018-12-19 | 2024-05-09 | Univ Hong Kong Chinese | Características de los extremos del ADN extracelular circulante |
| EP3899049A1 (en) * | 2018-12-21 | 2021-10-27 | F. Hoffmann-La Roche AG | Identification of global sequence features in whole genome sequence data from circulating nucelic acid |
| US12234514B2 (en) | 2018-12-21 | 2025-02-25 | Grail, Inc. | Source of origin deconvolution based on methylation fragments in cell-free DNA samples |
| 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 |
| CA3128379A1 (en) * | 2019-04-02 | 2020-10-08 | Grail, Inc. | Stratification of risk of virus associated cancers |
| US12217851B2 (en) * | 2019-05-10 | 2025-02-04 | Bayer Consumer Care Ag | Identification of candidate signs indicative of an NTRK oncogenic fusion |
| WO2020247263A1 (en) | 2019-06-06 | 2020-12-10 | Natera, Inc. | Methods for detecting immune cell dna and monitoring immune system |
| CN110825819A (zh) * | 2019-09-24 | 2020-02-21 | 昆明理工大学 | 一种处理有缺失值和不平衡非小细胞肺癌数据的二分类方法 |
| AU2020391488A1 (en) | 2019-11-27 | 2022-06-09 | GRAIL, Inc | Systems and methods for evaluating longitudinal biological feature data |
| CN115516108A (zh) | 2020-02-14 | 2022-12-23 | 约翰斯霍普金斯大学 | 评估核酸的方法和材料 |
| US11211147B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing |
| 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 |
| CN114093417B (zh) * | 2021-11-23 | 2022-10-04 | 深圳吉因加信息科技有限公司 | 一种鉴定染色体臂杂合性缺失的方法和装置 |
| CN115220623B (zh) * | 2021-12-17 | 2023-12-05 | 深圳市瑞图生物技术有限公司 | 染色体图像分析方法、设备及存储介质 |
| EP4530356A3 (en) | 2022-02-07 | 2025-07-09 | Centre for Novostics | Fragmentation for measuring methylation and disease |
| CN114525341A (zh) * | 2022-02-24 | 2022-05-24 | 苏州宏元生物科技有限公司 | 一种同时检测肺癌和肺部感染的试剂盒 |
| EP4547869A1 (en) | 2022-06-29 | 2025-05-07 | Raman Govindarajan | Method for detecting cancer susceptibility, early detection and predicting cancer behaviour |
| CN114898802B (zh) * | 2022-07-14 | 2022-09-30 | 臻和(北京)生物科技有限公司 | 基于血浆游离dna甲基化测序数据的末端序列频率分布特征确定方法、评价方法及装置 |
| WO2024129712A1 (en) * | 2022-12-12 | 2024-06-20 | Flagship Pioneering Innovations, Vi, Llc | Phased sequencing information from circulating tumor dna |
| 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 |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20090029377A1 (en) * | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing |
Family Cites Families (32)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO1994011531A1 (en) * | 1992-11-13 | 1994-05-26 | California Institute Of Biological Research | Identification of neoplasms by detection of genetic insertions and deletions |
| CH686982A5 (fr) | 1993-12-16 | 1996-08-15 | Maurice Stroun | Méthode pour le diagnostic de cancers. |
| EP0956365A4 (en) * | 1996-08-28 | 2004-08-25 | Univ Johns Hopkins Med | METHOD FOR DETECTING CELL PROLIFERATIVE DEREGULATIONS |
| EP1158055A1 (fr) | 2000-05-26 | 2001-11-28 | Xu Qi University of Teaxs Laboratoire de Leucémie Chen | Méthode pour le diagnostic de cancers |
| US20030219802A1 (en) * | 2002-03-08 | 2003-11-27 | The Regents Of The University Of Michigan | Diagnosis and treatment of osteosarcoma |
| EP1578994A2 (en) * | 2002-11-11 | 2005-09-28 | Affymetrix, Inc. | Methods for identifying dna copy number changes |
| US7704687B2 (en) | 2002-11-15 | 2010-04-27 | The Johns Hopkins University | Digital karyotyping |
| US20070212689A1 (en) | 2003-10-30 | 2007-09-13 | Bianchi Diana W | Prenatal Diagnosis Using Cell-Free Fetal DNA in Amniotic Fluid |
| EP1531183A1 (en) * | 2003-11-14 | 2005-05-18 | bioMérieux BV | Method for amplification of RNA sequences |
| JP2006094760A (ja) * | 2004-09-29 | 2006-04-13 | Canon Inc | 細胞のスクリーニング方法および口腔癌細胞検出方法 |
| DE602005009324D1 (de) | 2005-04-06 | 2008-10-09 | Maurice Stroun | Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf |
| CA2633339C (en) * | 2005-12-14 | 2019-03-19 | Cold Spring Harbor Laboratory | Methods for assessing probabilistic measures of clinical outcome using genomic profiling |
| CA2633203A1 (en) * | 2005-12-14 | 2007-06-21 | Michael H. Wigler | Use of roma for characterizing genomic rearrangements |
| FI20061136A0 (fi) * | 2006-12-19 | 2006-12-19 | Sakari Knuutila | Seulontamenetelmä |
| CN100533120C (zh) * | 2007-03-24 | 2009-08-26 | 辽宁师范大学 | 多色荧光复合扩增11个肺癌易感性相关snp位点试剂盒 |
| WO2008156827A2 (en) * | 2007-06-20 | 2008-12-24 | Government Of The United States Of America, As Represented By The Secretary, Department Of Health And Human Services | Molecular grading methods for ductal carcinoma in situ |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| US8093063B2 (en) | 2007-11-29 | 2012-01-10 | Quest Diagnostics Investments Incorporated | Assay for detecting genetic abnormalities in genomic nucleic acids |
| US20100041048A1 (en) * | 2008-07-31 | 2010-02-18 | The Johns Hopkins University | Circulating Mutant DNA to Assess Tumor Dynamics |
| GB2483810B (en) * | 2008-11-07 | 2012-09-05 | Sequenta Inc | Methods for correlating clonotypes with diseases in a population |
| US20100136560A1 (en) | 2008-12-02 | 2010-06-03 | The Johns Hopkins University | Integrated Analyses of Breast and Colorectal Cancers |
| WO2010070366A1 (en) * | 2008-12-15 | 2010-06-24 | Debreceni Egyetem | Cytometric method for the comparative analysis of the length of pcr products and uses of this method |
| CA2748030A1 (en) | 2008-12-22 | 2010-07-01 | Arnold R. Oliphant | Methods and genotyping panels for detecting alleles, genomes, and transcriptomes |
| 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. |
| EP4074838A1 (en) | 2010-01-19 | 2022-10-19 | Verinata Health, Inc. | Novel protocol for preparing sequencing libraries |
| 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 |
| PL2558854T3 (pl) * | 2010-04-16 | 2019-04-30 | Chronix Biomedical | Biomarkery będące krążącymi kwasami nukleinowymi związanymi z rakiem piersi |
| KR102042253B1 (ko) * | 2010-05-25 | 2019-11-07 | 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 | Bambam:고처리율 서열분석 데이터의 병렬 비교 분석 |
| US20120034603A1 (en) * | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| SG190344A1 (en) | 2010-11-30 | 2013-06-28 | Univ Hong Kong Chinese | Detection of genetic or molecular aberrations associated with cancer |
-
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Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20090029377A1 (en) * | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing |
Non-Patent Citations (2)
| Title |
|---|
| MULLER, I. et al., "Identification of Loss of Heterozygosity on Circulating Free DNA in Peripheral Blood of Prostate Cancer Patients: Potential and Technical Improvements", Clinical Chemistry, 2008, vol. 54, no. 4, pages 688-696, See Abstract; page 689, right hand column, paragraph 6 - page 690, left hand column, paragraph 2 * |
| TABACK, B. et al., "Prognostic Significance of Circulating Microsatellite Markers in the Plasma of Melanoma Patients", Cancer Research, 2001, vol. 61, pages 5723-5726, See Abstract; pg 5724, paragraphs 2-3 * |
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