CA2964158A1 - Methods and processes for non-invasive assessment of genetic variations - Google Patents
Methods and processes for non-invasive assessment of genetic variations Download PDFInfo
- Publication number
- CA2964158A1 CA2964158A1 CA2964158A CA2964158A CA2964158A1 CA 2964158 A1 CA2964158 A1 CA 2964158A1 CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A CA2964158 A CA 2964158A CA 2964158 A1 CA2964158 A1 CA 2964158A1
- Authority
- CA
- Canada
- Prior art keywords
- portions
- chromosome
- genomic region
- determining
- nucleotide sequence
- 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.)
- Pending
Links
Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- 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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- 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
- C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
- C12Q2535/122—Massive parallel sequencing
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Preparation Of Compounds By Using Micro-Organisms (AREA)
- General Physics & Mathematics (AREA)
- Mathematical Analysis (AREA)
- Mathematical Optimization (AREA)
- Mathematical Physics (AREA)
- Pure & Applied Mathematics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Algebra (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462062748P | 2014-10-10 | 2014-10-10 | |
| US62/062,748 | 2014-10-10 | ||
| PCT/US2015/054903 WO2016057901A1 (en) | 2014-10-10 | 2015-10-09 | Methods and processes for non-invasive assessment of genetic variations |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2964158A1 true CA2964158A1 (en) | 2016-04-14 |
Family
ID=54352504
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2964158A Pending CA2964158A1 (en) | 2014-10-10 | 2015-10-09 | Methods and processes for non-invasive assessment of genetic variations |
Country Status (6)
| Country | Link |
|---|---|
| US (3) | US10892035B2 (cg-RX-API-DMAC7.html) |
| EP (2) | EP3730629A1 (cg-RX-API-DMAC7.html) |
| JP (3) | JP6971845B2 (cg-RX-API-DMAC7.html) |
| AU (3) | AU2015330734B2 (cg-RX-API-DMAC7.html) |
| CA (1) | CA2964158A1 (cg-RX-API-DMAC7.html) |
| WO (1) | WO2016057901A1 (cg-RX-API-DMAC7.html) |
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| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP2946345B1 (en) | 2013-01-17 | 2024-04-03 | Personalis, Inc. | Methods and systems for genetic analysis |
| EP3736344A1 (en) | 2014-03-13 | 2020-11-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10125399B2 (en) | 2014-10-30 | 2018-11-13 | Personalis, Inc. | Methods for using mosaicism in nucleic acids sampled distal to their origin |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| US20170342477A1 (en) | 2016-05-27 | 2017-11-30 | Sequenom, Inc. | Methods for Detecting Genetic Variations |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3030894A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| EP4235676A3 (en) | 2017-01-20 | 2023-10-18 | Sequenom, Inc. | Methods for non-invasive assessment of genetic alterations |
| US11929143B2 (en) | 2017-01-20 | 2024-03-12 | Sequenom, Inc | Methods for non-invasive assessment of copy number alterations |
| US11352662B2 (en) | 2017-01-20 | 2022-06-07 | Sequenom, Inc. | Sequence adapter manufacture and use |
| EP3574424A1 (en) | 2017-01-24 | 2019-12-04 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| WO2018170511A1 (en) | 2017-03-17 | 2018-09-20 | Sequenom, Inc. | Methods and processes for assessment of genetic mosaicism |
| EP3655954A1 (en) | 2017-07-18 | 2020-05-27 | Congenica Ltd. | Screening system and method |
| GB2564847A (en) * | 2017-07-18 | 2019-01-30 | Congenica Ltd | Knowledgebase for non-invasive prenatal genetic screening and diagnosis |
| PL3658689T3 (pl) * | 2017-07-26 | 2021-10-18 | Trisomytest, S.R.O. | Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską |
| SK862017A3 (sk) * | 2017-08-24 | 2020-05-04 | Grendar Marian Doc Mgr Phd | Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní |
| EP3814480A4 (en) * | 2018-05-24 | 2022-03-09 | The Trustees of Columbia University in the City of New York | PLATFORM FOR CAPTURE AND SEQUENCING BACTERIA AND METHODS OF DESIGN, CONSTRUCTION AND USE |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| WO2020180424A1 (en) | 2019-03-04 | 2020-09-10 | Iocurrents, Inc. | Data compression and communication using machine learning |
| US20200303033A1 (en) * | 2019-03-18 | 2020-09-24 | Nantomics, Llc | System and method for data curation |
| CN112823391B (zh) * | 2019-06-03 | 2024-07-05 | Illumina公司 | 基于检测限的质量控制度量 |
| US11403641B2 (en) * | 2019-06-28 | 2022-08-02 | Paypal, Inc. | Transactional probability analysis on radial time representation |
| CA3147432A1 (en) * | 2019-07-31 | 2021-02-04 | Somalogic, Inc. | Method, apparatus, and computer-readable medium for adaptive normalization of analyte levels |
| WO2021087491A1 (en) | 2019-10-31 | 2021-05-06 | Sequenom, Inc. | Application of mosaicism ratio in multifetal gestations and personalized risk assessment |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| JP7747670B2 (ja) * | 2020-06-18 | 2025-10-01 | パーソナリス,インコーポレイティド | 表面提示ペプチドを予測するための機械学習技術 |
| US20240038339A1 (en) * | 2020-08-09 | 2024-02-01 | Myriad Women's Health, Inc. | Bayesian sex caller |
| BR112023002772A2 (pt) * | 2020-08-15 | 2023-05-02 | Life Technologies Corp | Analisador de dna com biblioteca de escadas alelicas sintéticas |
| KR102795708B1 (ko) * | 2020-11-27 | 2025-04-16 | 주식회사 지씨지놈 | 인공지능 기반 암 진단 및 암 종 예측방법 |
| US11688507B2 (en) * | 2020-12-29 | 2023-06-27 | Kpn Innovations, Llc. | Systems and methods for generating a metabolic dysfunction nourishment program |
| CN113158950B (zh) * | 2021-04-30 | 2022-04-05 | 天津深析智能科技发展有限公司 | 一种重叠染色体自动分割方法 |
| EP4413580A4 (en) | 2021-10-05 | 2025-08-13 | Personalis Inc | PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING |
| CN116149049B (zh) * | 2023-02-28 | 2025-07-11 | 河北工业大学 | 一种利用非对称脉冲调控超连续谱中光畸形波的方法 |
Family Cites Families (31)
| 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 |
| US8034567B2 (en) | 2002-09-06 | 2011-10-11 | Trustees Of Boston University | Quantification of gene expression |
| WO2004050839A2 (en) | 2002-11-27 | 2004-06-17 | Sequenom, Inc. | Fragmentation-based methods and systems for sequence variation detection and discovery |
| EP1641809B2 (en) | 2003-07-05 | 2018-10-03 | The Johns Hopkins University | Method and compositions for detection and enumeration of genetic variations |
| US20100216153A1 (en) * | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| CN101243191B (zh) | 2004-11-29 | 2014-04-16 | 塞昆纳姆股份有限公司 | 用于检测甲基化dna的手段和方法 |
| EP2029777B1 (en) | 2006-05-31 | 2017-03-08 | Sequenom, Inc. | Methods and compositions for the extraction of nucleic acid from a sample |
| CN101501251A (zh) | 2006-06-16 | 2009-08-05 | 塞昆纳姆股份有限公司 | 扩增、检测和定量样品中核酸的方法和组合物 |
| WO2009032779A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| WO2009032781A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for universal size-specific polymerase chain reaction |
| EP2276858A4 (en) | 2008-03-26 | 2011-10-05 | Sequenom Inc | RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION |
| DK2329021T3 (en) | 2008-09-16 | 2016-10-24 | Sequenom Inc | Methods and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample suitable for non-invasive prenatal diagnoses |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| CA2757493C (en) | 2009-04-03 | 2018-11-13 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| AU2010343276B2 (en) | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| US8700341B2 (en) * | 2010-01-19 | 2014-04-15 | Verinata Health, Inc. | Partition defined detection methods |
| SG185544A1 (en) | 2010-05-14 | 2012-12-28 | Fluidigm Corp | Nucleic acid isolation methods |
| US9139874B2 (en) | 2011-07-07 | 2015-09-22 | Life Technologies Corporation | Bi-directional sequencing compositions and methods |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2851537C (en) | 2011-10-11 | 2020-12-29 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP6431769B2 (ja) | 2012-01-20 | 2018-11-28 | セクエノム, インコーポレイテッド | 実験条件を要因として含める診断プロセス |
| EP4276194A3 (en) | 2012-05-21 | 2024-03-06 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| PL2981921T3 (pl) * | 2013-04-03 | 2023-05-08 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
| AU2014268377B2 (en) | 2013-05-24 | 2020-10-08 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10622094B2 (en) | 2013-06-21 | 2020-04-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| IL320112A (en) | 2013-10-04 | 2025-06-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| WO2015061359A1 (en) * | 2013-10-21 | 2015-04-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| EP3760739B1 (en) * | 2014-07-30 | 2025-09-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
-
2015
- 2015-10-09 JP JP2017518990A patent/JP6971845B2/ja active Active
- 2015-10-09 CA CA2964158A patent/CA2964158A1/en active Pending
- 2015-10-09 WO PCT/US2015/054903 patent/WO2016057901A1/en not_active Ceased
- 2015-10-09 AU AU2015330734A patent/AU2015330734B2/en active Active
- 2015-10-09 US US15/517,107 patent/US10892035B2/en active Active
- 2015-10-09 EP EP20172801.1A patent/EP3730629A1/en active Pending
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/en active Active
-
2020
- 2020-11-11 JP JP2020187745A patent/JP7773301B2/ja active Active
-
2021
- 2021-01-04 US US17/140,426 patent/US20210272650A1/en active Pending
- 2021-12-07 AU AU2021282416A patent/AU2021282416B2/en active Active
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2022
- 2022-11-30 JP JP2022191456A patent/JP2023022220A/ja active Pending
-
2024
- 2024-07-31 AU AU2024205243A patent/AU2024205243A1/en active Pending
-
2025
- 2025-01-17 US US19/026,416 patent/US20250239328A1/en active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| AU2015330734A1 (en) | 2017-04-20 |
| JP2018500876A (ja) | 2018-01-18 |
| US10892035B2 (en) | 2021-01-12 |
| EP3204512B1 (en) | 2020-05-06 |
| US20170316150A1 (en) | 2017-11-02 |
| EP3730629A1 (en) | 2020-10-28 |
| JP7773301B2 (ja) | 2025-11-19 |
| JP2021035387A (ja) | 2021-03-04 |
| US20250239328A1 (en) | 2025-07-24 |
| AU2021282416A1 (en) | 2021-12-23 |
| AU2021282416B2 (en) | 2024-05-09 |
| JP2023022220A (ja) | 2023-02-14 |
| AU2024205243A1 (en) | 2024-08-22 |
| JP6971845B2 (ja) | 2021-11-24 |
| AU2015330734B2 (en) | 2021-10-28 |
| US20210272650A1 (en) | 2021-09-02 |
| EP3204512A1 (en) | 2017-08-16 |
| WO2016057901A1 (en) | 2016-04-14 |
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Legal Events
| Date | Code | Title | Description |
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| EEER | Examination request |
Effective date: 20200820 |
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| EEER | Examination request |
Effective date: 20200820 |
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| EEER | Examination request |
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| EEER | Examination request |
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| EEER | Examination request |
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| EEER | Examination request |
Effective date: 20200820 |