JP2018524993A5 - - Google Patents
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- JP2018524993A5 JP2018524993A5 JP2018503647A JP2018503647A JP2018524993A5 JP 2018524993 A5 JP2018524993 A5 JP 2018524993A5 JP 2018503647 A JP2018503647 A JP 2018503647A JP 2018503647 A JP2018503647 A JP 2018503647A JP 2018524993 A5 JP2018524993 A5 JP 2018524993A5
- Authority
- JP
- Japan
- Prior art keywords
- mip
- sequence
- target
- population
- sample
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
- 239000000523 sample Substances 0.000 claims 30
- 239000002157 polynucleotide Substances 0.000 claims 29
- 108091033319 polynucleotide Proteins 0.000 claims 27
- 102000040430 polynucleotide Human genes 0.000 claims 27
- 238000000034 method Methods 0.000 claims 20
- 108091093088 Amplicon Proteins 0.000 claims 19
- 238000012163 sequencing technique Methods 0.000 claims 15
- 239000000203 mixture Substances 0.000 claims 8
- 102000039446 nucleic acids Human genes 0.000 claims 8
- 108020004707 nucleic acids Proteins 0.000 claims 8
- 150000007523 nucleic acids Chemical class 0.000 claims 8
- 108020004414 DNA Proteins 0.000 claims 6
- 239000002773 nucleotide Substances 0.000 claims 6
- 125000003729 nucleotide group Chemical group 0.000 claims 6
- 230000003321 amplification Effects 0.000 claims 5
- 208000036878 aneuploidy Diseases 0.000 claims 5
- 231100001075 aneuploidy Toxicity 0.000 claims 5
- 238000003199 nucleic acid amplification method Methods 0.000 claims 5
- 239000008280 blood Substances 0.000 claims 4
- 210000004369 blood Anatomy 0.000 claims 4
- 210000003754 fetus Anatomy 0.000 claims 4
- FGUUSXIOTUKUDN-IBGZPJMESA-N C1(=CC=CC=C1)N1C2=C(NC([C@H](C1)NC=1OC(=NN=1)C1=CC=CC=C1)=O)C=CC=C2 Chemical compound C1(=CC=CC=C1)N1C2=C(NC([C@H](C1)NC=1OC(=NN=1)C1=CC=CC=C1)=O)C=CC=C2 FGUUSXIOTUKUDN-IBGZPJMESA-N 0.000 claims 3
- 238000002844 melting Methods 0.000 claims 3
- 230000008018 melting Effects 0.000 claims 3
- GNFTZDOKVXKIBK-UHFFFAOYSA-N 3-(2-methoxyethoxy)benzohydrazide Chemical compound COCCOC1=CC=CC(C(=O)NN)=C1 GNFTZDOKVXKIBK-UHFFFAOYSA-N 0.000 claims 2
- 230000002759 chromosomal effect Effects 0.000 claims 2
- 210000000349 chromosome Anatomy 0.000 claims 2
- 230000000295 complement effect Effects 0.000 claims 2
- 230000008774 maternal effect Effects 0.000 claims 2
- 238000012216 screening Methods 0.000 claims 2
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims 1
- 108060002716 Exonuclease Proteins 0.000 claims 1
- 102000003960 Ligases Human genes 0.000 claims 1
- 108090000364 Ligases Proteins 0.000 claims 1
- 102000013165 exonuclease Human genes 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 238000007689 inspection Methods 0.000 claims 1
- 239000007788 liquid Substances 0.000 claims 1
- 210000002966 serum Anatomy 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201562198654P | 2015-07-29 | 2015-07-29 | |
| US62/198,654 | 2015-07-29 | ||
| PCT/US2016/044914 WO2017020023A2 (en) | 2015-07-29 | 2016-07-29 | Nucleic acids and methods for detecting chromosomal abnormalities |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2018524993A JP2018524993A (ja) | 2018-09-06 |
| JP2018524993A5 true JP2018524993A5 (https=) | 2019-09-05 |
| JP6830094B2 JP6830094B2 (ja) | 2021-02-17 |
Family
ID=56610036
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2018503647A Expired - Fee Related JP6830094B2 (ja) | 2015-07-29 | 2016-07-29 | 染色体異常を検出するための核酸及び方法 |
Country Status (7)
| Country | Link |
|---|---|
| US (3) | US10465245B2 (https=) |
| EP (2) | EP3329010B1 (https=) |
| JP (1) | JP6830094B2 (https=) |
| CN (1) | CN108350500A (https=) |
| CA (1) | CA2993347A1 (https=) |
| ES (1) | ES2745556T3 (https=) |
| WO (1) | WO2017020023A2 (https=) |
Families Citing this family (26)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US12129514B2 (en) | 2009-04-30 | 2024-10-29 | Molecular Loop Biosolutions, Llc | Methods and compositions for evaluating genetic markers |
| EP2425240A4 (en) | 2009-04-30 | 2012-12-12 | Good Start Genetics Inc | METHOD AND COMPOSITION FOR EVALUATING GENETIC MARKERS |
| US9163281B2 (en) | 2010-12-23 | 2015-10-20 | Good Start Genetics, Inc. | Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction |
| US8209130B1 (en) | 2012-04-04 | 2012-06-26 | Good Start Genetics, Inc. | Sequence assembly |
| US10227635B2 (en) | 2012-04-16 | 2019-03-12 | Molecular Loop Biosolutions, Llc | Capture reactions |
| US10851414B2 (en) | 2013-10-18 | 2020-12-01 | Good Start Genetics, Inc. | Methods for determining carrier status |
| WO2016040446A1 (en) | 2014-09-10 | 2016-03-17 | Good Start Genetics, Inc. | Methods for selectively suppressing non-target sequences |
| WO2016112073A1 (en) * | 2015-01-06 | 2016-07-14 | Good Start Genetics, Inc. | Screening for structural variants |
| WO2017020023A2 (en) | 2015-07-29 | 2017-02-02 | Progenity, Inc. | Nucleic acids and methods for detecting chromosomal abnormalities |
| WO2017087560A1 (en) * | 2015-11-16 | 2017-05-26 | Progenity, Inc. | Nucleic acids and methods for detecting methylation status |
| US10787699B2 (en) * | 2017-02-08 | 2020-09-29 | Microsoft Technology Licensing, Llc | Generating pluralities of primer and payload designs for retrieval of stored nucleotides |
| US11441174B2 (en) | 2017-06-02 | 2022-09-13 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using differently labelled allele-specific probes |
| WO2018223055A1 (en) * | 2017-06-02 | 2018-12-06 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using differently labelled allele-specific probes |
| WO2018223057A1 (en) * | 2017-06-02 | 2018-12-06 | Affymetrix, Inc. | Array-based methods for analysing mixed samples using different allele-specific labels, in particular for detection of fetal aneuploidies |
| CN120905352A (zh) | 2018-04-02 | 2025-11-07 | 埃努梅拉分子股份有限公司 | 用于对核酸分子进行计数的方法、系统和组合物 |
| 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 |
| US12247249B2 (en) * | 2018-12-21 | 2025-03-11 | Inivata Ltd. | Method for amplifying a genomic sample |
| EP3947718A4 (en) | 2019-04-02 | 2022-12-21 | Enumera Molecular, Inc. | METHODS, SYSTEMS AND COMPOSITIONS FOR COUNTING NUCLEIC ACID MOLECULES |
| CN112063690A (zh) * | 2020-09-18 | 2020-12-11 | 北京求臻医学检验实验室有限公司 | 单分子探针多重靶向捕获文库的构建方法及应用 |
| AU2021345359A1 (en) | 2020-09-21 | 2023-05-11 | Enumera Molecular, Inc. | Compositions and methods for isolation of cell-free dna |
| CN112266948A (zh) * | 2020-11-06 | 2021-01-26 | 中山大学孙逸仙纪念医院 | 一种高通量靶向建库的方法和应用 |
| US12467081B2 (en) | 2020-11-23 | 2025-11-11 | Pleno, Inc. | Encoded endonuclease assays |
| CN112458085A (zh) * | 2020-12-10 | 2021-03-09 | 北京求臻医学检验实验室有限公司 | 一种新型分子捕获优化探针及其文库构建方法 |
| US12493965B2 (en) | 2020-12-11 | 2025-12-09 | Enumera Molecular, Inc. | Methods and systems for image processing |
| WO2022140579A1 (en) * | 2020-12-24 | 2022-06-30 | Progenity, Inc. | Methods of preparing assays, systems, and compositions for determining fetal fraction |
| JP2025540154A (ja) * | 2022-12-02 | 2025-12-11 | ルーセンス ライフ サイエンシズ プライベート リミテッド | 遺伝子変化の効率的な多重検出および定量化のための方法 |
Family Cites Families (42)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5866337A (en) | 1995-03-24 | 1999-02-02 | The Trustees Of Columbia University In The City Of New York | Method to detect mutations in a nucleic acid using a hybridization-ligation procedure |
| US5750341A (en) | 1995-04-17 | 1998-05-12 | Lynx Therapeutics, Inc. | DNA sequencing by parallel oligonucleotide extensions |
| US6852487B1 (en) | 1996-02-09 | 2005-02-08 | Cornell Research Foundation, Inc. | Detection of nucleic acid sequence differences using the ligase detection reaction with addressable arrays |
| SE9601676D0 (sv) | 1996-04-30 | 1996-04-30 | Ulf Landegren | Improved probing of specific mucleic acids |
| EP2369007B1 (en) | 1996-05-29 | 2015-07-29 | Cornell Research Foundation, Inc. | Detection of nucleic acid sequence differences using coupled ligase detection and polymerase chain reactions |
| US5817921A (en) | 1996-07-12 | 1998-10-06 | Advanced Technology Materials, Inc. | Piezoelectric enviromental fluid monitoring assembly and method |
| GB9620209D0 (en) | 1996-09-27 | 1996-11-13 | Cemu Bioteknik Ab | Method of sequencing DNA |
| US6054276A (en) | 1998-02-23 | 2000-04-25 | Macevicz; Stephen C. | DNA restriction site mapping |
| AU3601599A (en) | 1998-03-25 | 1999-10-18 | Ulf Landegren | Rolling circle replication of padlock probes |
| US6787308B2 (en) | 1998-07-30 | 2004-09-07 | Solexa Ltd. | Arrayed biomolecules and their use in sequencing |
| FR2784683B1 (fr) * | 1998-10-15 | 2002-12-13 | Genset Sa | Sondes fluorescentes de peinture chromosomique |
| GB9901475D0 (en) | 1999-01-22 | 1999-03-17 | Pyrosequencing Ab | A method of DNA sequencing |
| US6818395B1 (en) | 1999-06-28 | 2004-11-16 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences |
| AU7537200A (en) | 1999-09-29 | 2001-04-30 | Solexa Ltd. | Polynucleotide sequencing |
| DE60131903T2 (de) | 2000-10-24 | 2008-11-27 | The Board of Trustees of the Leland S. Stanford Junior University, Palo Alto | Direkte multiplex charakterisierung von genomischer dna |
| GB2378245A (en) | 2001-08-03 | 2003-02-05 | Mats Nilsson | Nucleic acid amplification method |
| WO2005014846A2 (en) * | 2003-07-24 | 2005-02-17 | Sequenom, Inc. | Methods for identifying risk of breast cancer and treatments thereof |
| US20060024681A1 (en) | 2003-10-31 | 2006-02-02 | Agencourt Bioscience Corporation | Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof |
| CA2615323A1 (en) | 2005-06-06 | 2007-12-21 | 454 Life Sciences Corporation | Paired end sequencing |
| 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 |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US7329860B2 (en) | 2005-11-23 | 2008-02-12 | Illumina, Inc. | Confocal imaging methods and apparatus |
| US8828661B2 (en) | 2006-04-24 | 2014-09-09 | Fluidigm Corporation | Methods for detection and quantification of nucleic acid or protein targets in a sample |
| WO2007147079A2 (en) * | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Rare cell analysis using sample splitting and dna tags |
| EP4170042A1 (en) | 2006-06-14 | 2023-04-26 | Verinata Health, Inc. | Methods for the diagnosis of fetal abnormalities |
| US7754429B2 (en) | 2006-10-06 | 2010-07-13 | Illumina Cambridge Limited | Method for pair-wise sequencing a plurity of target polynucleotides |
| EP2126766A2 (en) | 2007-01-26 | 2009-12-02 | Illumina Inc. | Image data efficient genetic sequencing method and system |
| US20080269068A1 (en) | 2007-02-06 | 2008-10-30 | President And Fellows Of Harvard College | Multiplex decoding of sequence tags in barcodes |
| EP2425240A4 (en) * | 2009-04-30 | 2012-12-12 | Good Start Genetics Inc | METHOD AND COMPOSITION FOR EVALUATING GENETIC MARKERS |
| WO2011041485A1 (en) | 2009-09-30 | 2011-04-07 | Gene Security Network, Inc. | Methods for non-invasive prenatal ploidy calling |
| CA2767028A1 (en) * | 2009-11-25 | 2011-06-03 | Quantalife, Inc. | Methods and compositions for detecting genetic material |
| JP2013511991A (ja) * | 2009-11-25 | 2013-04-11 | クアンタライフ， インコーポレイテッド | 遺伝子材料を検出する方法および組成物 |
| US20130022973A1 (en) * | 2010-01-15 | 2013-01-24 | Hansen Carl L G | Multiplex Amplification for the Detection of Nucleic Acid Variations |
| US8759036B2 (en) | 2011-03-21 | 2014-06-24 | Affymetrix, Inc. | Methods for synthesizing pools of probes |
| US10227635B2 (en) * | 2012-04-16 | 2019-03-12 | Molecular Loop Biosolutions, Llc | Capture reactions |
| US10497461B2 (en) * | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN104781421B (zh) | 2012-09-04 | 2020-06-05 | 夸登特健康公司 | 检测稀有突变和拷贝数变异的系统和方法 |
| WO2014165267A2 (en) * | 2013-03-12 | 2014-10-09 | Counsyl, Inc. | Systems and methods for prenatal genetic analysis |
| MX2015012733A (es) * | 2013-03-15 | 2016-06-21 | Immucor Gti Diagnostics Inc | Metodos y composiciones para evaluar el estado renal usando adn libre de celulas de la orina. |
| US20150141257A1 (en) | 2013-08-02 | 2015-05-21 | Roche Nimblegen, Inc. | Sequence capture method using specialized capture probes (heatseq) |
| CA2993619A1 (en) | 2015-07-29 | 2017-02-02 | Progenity, Inc. | Systems and methods for genetic analysis |
| WO2017020023A2 (en) | 2015-07-29 | 2017-02-02 | Progenity, Inc. | Nucleic acids and methods for detecting chromosomal abnormalities |
-
2016
- 2016-07-29 WO PCT/US2016/044914 patent/WO2017020023A2/en not_active Ceased
- 2016-07-29 CA CA2993347A patent/CA2993347A1/en not_active Abandoned
- 2016-07-29 JP JP2018503647A patent/JP6830094B2/ja not_active Expired - Fee Related
- 2016-07-29 EP EP16748036.7A patent/EP3329010B1/en not_active Not-in-force
- 2016-07-29 ES ES16748036T patent/ES2745556T3/es active Active
- 2016-07-29 US US15/224,463 patent/US10465245B2/en active Active
- 2016-07-29 CN CN201680054740.0A patent/CN108350500A/zh active Pending
- 2016-07-29 EP EP19185115.3A patent/EP3608420B1/en active Active
-
2019
- 2019-10-08 US US16/596,118 patent/US20200032344A1/en not_active Abandoned
-
2020
- 2020-07-30 US US16/943,870 patent/US10947595B2/en not_active Expired - Fee Related
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