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)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Preparation Of Compounds By Using Micro-Organisms (AREA)
- Algebra (AREA)
- General Physics & Mathematics (AREA)
- Mathematical Analysis (AREA)
- Mathematical Optimization (AREA)
- Mathematical Physics (AREA)
- Pure & Applied Mathematics (AREA)
- Chemical Kinetics & Catalysis (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 (enExample) |
| EP (2) | EP3730629A1 (enExample) |
| JP (3) | JP6971845B2 (enExample) |
| AU (3) | AU2015330734B2 (enExample) |
| CA (1) | CA2964158A1 (enExample) |
| WO (1) | WO2016057901A1 (enExample) |
Families Citing this family (34)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2014113204A1 (en) | 2013-01-17 | 2014-07-24 | Personalis, Inc. | Methods and systems for genetic analysis |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | 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 |
| WO2018022906A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Methods for non-invasive assessment of genomic instability |
| US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3194557A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Sequencing adapter manufacture and use |
| WO2018136882A1 (en) | 2017-01-20 | 2018-07-26 | Sequenom, Inc. | Methods for non-invasive assessment of copy number alterations |
| US11929145B2 (en) | 2017-01-20 | 2024-03-12 | Sequenom, Inc | Methods for non-invasive assessment of genetic alterations |
| WO2018140521A1 (en) | 2017-01-24 | 2018-08-02 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| PT3596233T (pt) | 2017-03-17 | 2022-08-22 | Sequenom Inc | Métodos e processos para avaliação de mosaicismo genético |
| CN111433855A (zh) | 2017-07-18 | 2020-07-17 | 康捷尼科有限公司 | 筛查系统和方法 |
| GB2564847A (en) * | 2017-07-18 | 2019-01-30 | Congenica Ltd | Knowledgebase for non-invasive prenatal genetic screening and diagnosis |
| HRP20210826T1 (hr) * | 2017-07-26 | 2021-07-09 | Trisomytest, S.R.O. | Postupak neinvazivnog prenatalnog otkrivanja fetalnog kromosoma aneuploidija iz majčine krvi na temelju bayes mreže |
| 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 |
| WO2019226992A1 (en) * | 2018-05-24 | 2019-11-28 | The Trustees Of Columbia University In The City Of New York | Bacterial capture sequencing platform and methods of designing, constructing and using |
| KR102287096B1 (ko) * | 2019-01-04 | 2021-08-09 | 테라젠지놈케어 주식회사 | 모체 시료 중 태아 분획을 결정하는 방법 |
| EP3935581A4 (en) | 2019-03-04 | 2022-11-30 | 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 |
| US12260935B2 (en) * | 2019-06-03 | 2025-03-25 | Illumina, Inc. | Limit of detection based quality control metric |
| US11403641B2 (en) * | 2019-06-28 | 2022-08-02 | Paypal, Inc. | Transactional probability analysis on radial time representation |
| BR112022001579A2 (pt) * | 2019-07-31 | 2022-04-19 | Somalogic Inc | Método, aparelho, e meio legível por computador para normalização adaptativa de níveis de analito |
| CA3159786A1 (en) | 2019-10-31 | 2021-05-06 | Sequenom, Inc. | Application of mosaicism ratio in multifetal gestations and personalized risk assessment |
| WO2021092066A1 (en) | 2019-11-05 | 2021-05-14 | Personalis, Inc. | Estimating tumor purity from single samples |
| WO2021257879A1 (en) * | 2020-06-18 | 2021-12-23 | Personalis Inc. | Machine-learning techniques for predicting surface-presenting peptides |
| 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 |
| CN1703521B (zh) | 2002-09-06 | 2011-11-16 | 波士顿大学信托人 | 基因表达的定量 |
| CA2507189C (en) | 2002-11-27 | 2018-06-12 | Sequenom, Inc. | Fragmentation-based methods and systems for sequence variation detection and discovery |
| CA2531105C (en) | 2003-07-05 | 2015-03-17 | 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 |
| WO2006056480A2 (en) | 2004-11-29 | 2006-06-01 | Klinikum Der Universität Regensburg | Means and methods for detecting methylated dna |
| EP3260556B1 (en) | 2006-05-31 | 2019-07-31 | Sequenom, Inc. | Methods for the extraction of nucleic acid from a sample |
| AU2007260750A1 (en) | 2006-06-16 | 2007-12-21 | Sequenom, Inc. | Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample |
| US9404150B2 (en) | 2007-08-29 | 2016-08-02 | Sequenom, Inc. | Methods and compositions for universal size-specific PCR |
| WO2009032779A2 (en) | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| US8206926B2 (en) | 2008-03-26 | 2012-06-26 | Sequenom, Inc. | Restriction endonuclease enhanced polymorphic sequence detection |
| CA2737200C (en) | 2008-09-16 | 2020-03-31 | Sequenom Center For Molecular Medicine | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful 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 |
| EP2414545B1 (en) | 2009-04-03 | 2017-01-11 | Sequenom, Inc. | Nucleic acid preparation compositions and methods |
| AU2010343277B2 (en) | 2010-01-19 | 2015-05-28 | Verinata Health, Inc. | Method for determining copy number variations |
| AU2011207561B2 (en) * | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| SG185544A1 (en) | 2010-05-14 | 2012-12-28 | Fluidigm Corp | Nucleic acid isolation methods |
| WO2013019361A1 (en) | 2011-07-07 | 2013-02-07 | Life Technologies Corporation | Sequencing methods |
| US20140242588A1 (en) | 2011-10-06 | 2014-08-28 | 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 |
| EP2805280B1 (en) * | 2012-01-20 | 2022-10-05 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| ES2902401T3 (es) | 2012-05-21 | 2022-03-28 | Sequenom Inc | Métodos y procesos para la evaluación no invasiva de variaciones genéticas |
| 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 |
| EP4187543A1 (en) * | 2013-04-03 | 2023-05-31 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10699800B2 (en) | 2013-05-24 | 2020-06-30 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| KR102299305B1 (ko) * | 2013-06-21 | 2021-09-06 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| DK3053071T3 (da) | 2013-10-04 | 2024-01-22 | Sequenom Inc | Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer |
| JP6534191B2 (ja) * | 2013-10-21 | 2019-06-26 | ベリナタ ヘルス インコーポレイテッド | コピー数変動を決定することにおける検出の感度を向上させるための方法 |
| EP3175000B1 (en) * | 2014-07-30 | 2020-07-29 | 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 AU AU2015330734A patent/AU2015330734B2/en active Active
- 2015-10-09 CA CA2964158A patent/CA2964158A1/en active Pending
- 2015-10-09 EP EP20172801.1A patent/EP3730629A1/en active Pending
- 2015-10-09 WO PCT/US2015/054903 patent/WO2016057901A1/en not_active Ceased
- 2015-10-09 EP EP15785002.5A patent/EP3204512B1/en active Active
- 2015-10-09 US US15/517,107 patent/US10892035B2/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
-
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 |
|---|---|
| US10892035B2 (en) | 2021-01-12 |
| AU2021282416A1 (en) | 2021-12-23 |
| JP2023022220A (ja) | 2023-02-14 |
| US20210272650A1 (en) | 2021-09-02 |
| EP3204512B1 (en) | 2020-05-06 |
| US20250239328A1 (en) | 2025-07-24 |
| JP2021035387A (ja) | 2021-03-04 |
| AU2024205243A1 (en) | 2024-08-22 |
| AU2015330734B2 (en) | 2021-10-28 |
| JP7773301B2 (ja) | 2025-11-19 |
| US20170316150A1 (en) | 2017-11-02 |
| AU2021282416B2 (en) | 2024-05-09 |
| EP3730629A1 (en) | 2020-10-28 |
| JP6971845B2 (ja) | 2021-11-24 |
| EP3204512A1 (en) | 2017-08-16 |
| JP2018500876A (ja) | 2018-01-18 |
| AU2015330734A1 (en) | 2017-04-20 |
| WO2016057901A1 (en) | 2016-04-14 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20200820 |
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