DK3202915T3 - Anvendelse af cellefri dna-fragmentstørrelse til at bestemme kopiantalvariationer - Google Patents
Anvendelse af cellefri dna-fragmentstørrelse til at bestemme kopiantalvariationer Download PDFInfo
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- DK3202915T3 DK3202915T3 DK16205580.0T DK16205580T DK3202915T3 DK 3202915 T3 DK3202915 T3 DK 3202915T3 DK 16205580 T DK16205580 T DK 16205580T DK 3202915 T3 DK3202915 T3 DK 3202915T3
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- copi
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- dna fragment
- free dna
- fragment size
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Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201662290891P | 2016-02-03 | 2016-02-03 |
Publications (1)
Publication Number | Publication Date |
---|---|
DK3202915T3 true DK3202915T3 (da) | 2019-06-24 |
Family
ID=57583028
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK16205580.0T DK3202915T3 (da) | 2016-02-03 | 2016-12-20 | Anvendelse af cellefri dna-fragmentstørrelse til at bestemme kopiantalvariationer |
Country Status (19)
Country | Link |
---|---|
US (3) | US10095831B2 (da) |
EP (2) | EP3517626B1 (da) |
KR (2) | KR102184868B1 (da) |
CN (2) | CN108884491B (da) |
AR (1) | AR107192A1 (da) |
AU (2) | AU2016391100B2 (da) |
BR (1) | BR112018015913B1 (da) |
CA (1) | CA3013572C (da) |
CY (1) | CY1121741T1 (da) |
DK (1) | DK3202915T3 (da) |
EA (2) | EA202090277A3 (da) |
IL (2) | IL260938B (da) |
MA (2) | MA52131A (da) |
NZ (1) | NZ745637A (da) |
SG (1) | SG11201806595UA (da) |
TW (2) | TWI661049B (da) |
UA (1) | UA126898C2 (da) |
WO (1) | WO2017136059A1 (da) |
ZA (1) | ZA201805753B (da) |
Families Citing this family (50)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
JP6410726B2 (ja) | 2012-12-10 | 2018-10-24 | レゾリューション バイオサイエンス, インコーポレイテッド | 標的化ゲノム解析のための方法 |
AU2014340239B2 (en) | 2013-10-21 | 2019-11-28 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
AU2015266665C1 (en) | 2014-05-30 | 2021-12-23 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
EP3567120B1 (en) | 2014-12-12 | 2020-08-19 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
RU2018121254A (ru) | 2015-11-11 | 2019-12-16 | Резолюшн Байосайенс, Инк. | Высокоэффективное построение библиотек днк |
US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
US11514289B1 (en) * | 2016-03-09 | 2022-11-29 | Freenome Holdings, Inc. | Generating machine learning models using genetic data |
CN109863249A (zh) * | 2016-08-10 | 2019-06-07 | 纽约基因组中心 | 超低覆盖度基因组测序及其应用 |
KR102505122B1 (ko) | 2016-08-25 | 2023-03-08 | 레졸루션 바이오사이언스, 인크. | Dna 샘플 중 게놈 카피 변화의 검출을 위한 방법 |
TW202348802A (zh) * | 2017-01-25 | 2023-12-16 | 香港中文大學 | 使用核酸片段之診斷應用 |
US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
AU2018355575A1 (en) | 2017-10-27 | 2020-05-21 | Juno Diagnostics, Inc. | Devices, systems and methods for ultra-low volume liquid biopsy |
GB201718620D0 (en) * | 2017-11-10 | 2017-12-27 | Premaitha Ltd | Method of detecting a fetal chromosomal abnormality |
JP2021519607A (ja) * | 2018-02-27 | 2021-08-12 | コーネル・ユニバーシティーCornell University | ゲノムワイド統合による循環腫瘍dnaの超音波感受性検出 |
EP3765633A4 (en) * | 2018-03-13 | 2021-12-01 | Grail, Inc. | PROCESS AND SYSTEM FOR THE SELECTION, ADMINISTRATION AND ANALYSIS OF HIGH DIMENSIONAL DATA |
US20190295684A1 (en) * | 2018-03-22 | 2019-09-26 | The Regents Of The University Of Michigan | Method and apparatus for analysis of chromatin interaction data |
EP3773534A4 (en) * | 2018-03-30 | 2021-12-29 | Juno Diagnostics, Inc. | Deep learning-based methods, devices, and systems for prenatal testing |
CA3064622A1 (en) | 2018-04-02 | 2019-10-10 | Illumina, Inc. | Compositions and methods for making controls for sequence-based genetic testing |
WO2019200404A2 (en) * | 2018-04-13 | 2019-10-17 | Grail, Inc. | Multi-assay prediction model for cancer detection |
TWI822789B (zh) | 2018-06-01 | 2023-11-21 | 美商格瑞爾有限責任公司 | 用於資料分類之卷積神經網路系統及方法 |
WO2020006183A1 (en) * | 2018-06-28 | 2020-01-02 | 10X Genomics, Inc. | Systems and methods for visualization of single-cell resolution characteristics |
JP6891150B2 (ja) * | 2018-08-31 | 2021-06-18 | シスメックス株式会社 | 解析方法、情報処理装置、遺伝子解析システム、プログラム、記録媒体 |
US11610150B2 (en) | 2018-10-09 | 2023-03-21 | Ferrum Health, Inc. | Method for computing performance in multiple machine learning classifiers |
US11488716B2 (en) * | 2018-10-09 | 2022-11-01 | Ferrum Health, Inc. | Method for configuring multiple machine learning classifiers |
US11581062B2 (en) | 2018-12-10 | 2023-02-14 | Grail, Llc | Systems and methods for classifying patients with respect to multiple cancer classes |
CN113454218A (zh) * | 2018-12-20 | 2021-09-28 | 夸登特健康公司 | 用于改进核酸分子的回收的方法、组合物和系统 |
CN113195741A (zh) * | 2018-12-21 | 2021-07-30 | 豪夫迈·罗氏有限公司 | 从循环核酸中鉴定全基因组序列数据中的全局序列特征 |
KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
JP7506060B2 (ja) * | 2019-06-03 | 2024-06-25 | イルミナ インコーポレイテッド | 検出限界ベースの品質管理メトリック |
CN110373477B (zh) * | 2019-07-23 | 2021-05-07 | 华中农业大学 | 克隆自cnv片段的与猪耳形性状相关的分子标记 |
CN110570902B (zh) * | 2019-08-27 | 2023-05-23 | 深圳百诺精准医疗科技有限公司 | 一种拷贝数变异分析方法、系统及计算机可读存储介质 |
EP4035161A1 (en) * | 2019-09-23 | 2022-08-03 | Grail, LLC | Systems and methods for diagnosing a disease condition using on-target and off-target sequencing data |
US20210189494A1 (en) * | 2019-12-18 | 2021-06-24 | The Chinese University Of Hong Kong | Cell-free dna fragmentation and nucleases |
CN111028890B (zh) * | 2019-12-31 | 2020-09-11 | 东莞博奥木华基因科技有限公司 | 一种基于run间矫正的CNV检测方法 |
CN111210873B (zh) * | 2020-01-14 | 2023-03-28 | 西安交通大学 | 基于外显子测序数据的拷贝数变异检测方法及系统、终端和存储介质 |
US20210265007A1 (en) * | 2020-02-05 | 2021-08-26 | The Chinese University Of Hong Kong | Molecular analyses using long cell-free fragments in pregnancy |
CN111477275B (zh) * | 2020-04-02 | 2020-12-25 | 上海之江生物科技股份有限公司 | 微生物目标片段中多拷贝区域的识别方法、装置及应用 |
CN111411144B (zh) * | 2020-04-21 | 2023-12-22 | 深圳华大因源医药科技有限公司 | 一种用于血流感染病原诊断的血浆游离dna标志物 |
WO2021219114A1 (zh) * | 2020-04-30 | 2021-11-04 | 深圳市真迈生物科技有限公司 | 测序方法及其分析方法和系统、计算机可读存储介质和电子设备 |
US20220170010A1 (en) | 2020-12-02 | 2022-06-02 | Illumina Software, Inc. | System and method for detection of genetic alterations |
CN112766428B (zh) * | 2021-04-08 | 2021-07-02 | 臻和(北京)生物科技有限公司 | 肿瘤分子分型方法及装置、终端设备及可读存储介质 |
CN113270138B (zh) * | 2021-04-13 | 2023-09-22 | 杭州博圣医学检验实验室有限公司 | 基于生物信息学富集胎儿游离dna用于拷贝数变异的分析方法 |
CN113889187B (zh) * | 2021-09-24 | 2022-12-06 | 上海仁东医学检验所有限公司 | 单样本等位基因拷贝数变异检测方法、探针组和试剂盒 |
CN118103525A (zh) * | 2021-10-08 | 2024-05-28 | 基金会医学公司 | 用于自动调用拷贝数改变的方法和系统 |
KR20230114952A (ko) * | 2022-01-26 | 2023-08-02 | 권창혁 | 암 판별 장치 및 암 판별 방법 |
WO2023192942A1 (en) * | 2022-03-31 | 2023-10-05 | Illumina, Inc. | Copy number variant calling for lpa kiv-2 repeat |
CN114464269B (zh) * | 2022-04-07 | 2022-07-08 | 国家超级计算天津中心 | 一种虚拟药物生成方法、装置及计算机设备 |
WO2024044749A1 (en) * | 2022-08-26 | 2024-02-29 | Fred Hutchinson Cancer Center | Cell-free dna sequence data analysis techniques for estimating fetal fraction and predicting preeclampsia |
CN116597893B (zh) * | 2023-06-14 | 2023-12-15 | 北京金匙医学检验实验室有限公司 | 预测耐药基因-病原微生物归属的方法 |
CN117116344A (zh) * | 2023-10-25 | 2023-11-24 | 北京大学第三医院(北京大学第三临床医学院) | 一种单细胞水平pmp22重复变异的检测系统和方法 |
Family Cites Families (46)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
EP1910537A1 (en) | 2005-06-06 | 2008-04-16 | 454 Life Sciences Corporation | Paired end sequencing |
EP2081442B1 (en) | 2006-10-10 | 2016-08-10 | TrovaGene, Inc. | Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media |
US8262900B2 (en) | 2006-12-14 | 2012-09-11 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale FET arrays |
EA028642B1 (ru) | 2007-07-23 | 2017-12-29 | Те Чайниз Юниверсити Ов Гонгконг | Способ пренатальной диагностики фетальной хромосомной анэуплоидии |
CA2701726A1 (en) | 2007-10-04 | 2009-04-09 | Halcyon Molecular | Sequencing nucleic acid polymers with electron microscopy |
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 |
US20100261183A1 (en) | 2007-11-01 | 2010-10-14 | Adam Marcus Shlien | Method of determining risk for cancer |
EP3751005A3 (en) | 2008-09-20 | 2021-02-24 | The Board of Trustees of the Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
EA034241B1 (ru) | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
US9323888B2 (en) * | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
CA2786565C (en) | 2010-01-19 | 2017-04-25 | Verinata Health, Inc. | Partition defined detection methods |
WO2012006291A2 (en) | 2010-07-06 | 2012-01-12 | Life Technologies Corporation | Systems and methods to detect copy number variation |
US9029103B2 (en) | 2010-08-27 | 2015-05-12 | Illumina Cambridge Limited | Methods for sequencing polynucleotides |
US8725422B2 (en) * | 2010-10-13 | 2014-05-13 | Complete Genomics, Inc. | Methods for estimating genome-wide copy number variations |
SG10202008532PA (en) | 2010-11-30 | 2020-10-29 | Univ Hong Kong Chinese | Detection of genetic or molecular aberrations associated with cancer |
US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
ES2605372T3 (es) | 2011-05-31 | 2017-03-14 | Berry Genomics Co., Ltd. | Un dispositivo para detectar el número de copias de cromosomas fetales o cromosomas de células tumorales |
SI2561103T1 (sl) | 2011-06-29 | 2014-11-28 | Bgi Diagnosis Co., Ltd. | Neinvazivna detekcija genetske anomalije ploda |
EP2563937A1 (en) | 2011-07-26 | 2013-03-06 | Verinata Health, Inc | Method for determining the presence or absence of different aneuploidies in a sample |
AU2012318371B2 (en) | 2011-10-06 | 2018-03-22 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US20140370504A1 (en) | 2011-12-31 | 2014-12-18 | Bgi Diagnosis Co., Ltd. | Method for detecting genetic variation |
WO2013109981A1 (en) | 2012-01-20 | 2013-07-25 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
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 |
CA2866324C (en) | 2012-03-13 | 2019-01-15 | The Chinese University Of Hong Kong | Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis |
CN108485940B (zh) * | 2012-04-12 | 2022-01-28 | 维里纳塔健康公司 | 拷贝数变异的检测和分类 |
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 |
WO2014014497A1 (en) | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer genome |
US20140066317A1 (en) * | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
CN110872617A (zh) * | 2012-09-04 | 2020-03-10 | 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 |
EP2900835A4 (en) | 2012-09-27 | 2016-05-11 | Population Diagnotics Inc | METHODS AND COMPOSITIONS FOR DETECTING AND TREATING DEVELOPMENTAL DISORDERS |
GB2528205B (en) | 2013-03-15 | 2020-06-03 | Guardant Health Inc | Systems and methods to detect rare mutations and copy number variation |
CA2915626A1 (en) * | 2013-06-17 | 2014-12-24 | Verinata Health, Inc. | Method for determining copy number variations in sex chromosomes |
BR112015032031B1 (pt) | 2013-06-21 | 2023-05-16 | Sequenom, Inc | Métodos e processos para avaliação não invasiva das variações genéticas |
AU2014340239B2 (en) | 2013-10-21 | 2019-11-28 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
US10415083B2 (en) | 2013-10-28 | 2019-09-17 | The Translational Genomics Research Institute | Long insert-based whole genome sequencing |
AU2015266665C1 (en) | 2014-05-30 | 2021-12-23 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
EP3567120B1 (en) | 2014-12-12 | 2020-08-19 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
WO2016134452A1 (en) | 2015-02-26 | 2016-09-01 | Titan Medical Inc. | Method and apparatus for providing access for a surgical procedure |
US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
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