CA3115513A1 - Limit of detection based quality control metric - Google Patents
Limit of detection based quality control metric Download PDFInfo
- Publication number
- CA3115513A1 CA3115513A1 CA3115513A CA3115513A CA3115513A1 CA 3115513 A1 CA3115513 A1 CA 3115513A1 CA 3115513 A CA3115513 A CA 3115513A CA 3115513 A CA3115513 A CA 3115513A CA 3115513 A1 CA3115513 A1 CA 3115513A1
- Authority
- CA
- Canada
- Prior art keywords
- sequence
- fetal fraction
- coverage
- samples
- 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.)
- 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- 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
-
- 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
-
- 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
- G16B30/20—Sequence assembly
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/30—Unsupervised data analysis
Landscapes
- Engineering & Computer Science (AREA)
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Biophysics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- General Health & Medical Sciences (AREA)
- Theoretical Computer Science (AREA)
- Data Mining & Analysis (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Chemical & Material Sciences (AREA)
- Artificial Intelligence (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Databases & Information Systems (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Software Systems (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Medical Treatment And Welfare Office Work (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201962856651P | 2019-06-03 | 2019-06-03 | |
| US62/856,651 | 2019-06-03 | ||
| PCT/US2020/035787 WO2020247411A1 (en) | 2019-06-03 | 2020-06-02 | Limit of detection based quality control metric |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3115513A1 true CA3115513A1 (en) | 2020-12-10 |
Family
ID=71842782
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3115513A Pending CA3115513A1 (en) | 2019-06-03 | 2020-06-02 | Limit of detection based quality control metric |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US12260935B2 (https=) |
| EP (1) | EP3977459A1 (https=) |
| JP (1) | JP7506060B2 (https=) |
| KR (1) | KR20220013349A (https=) |
| CN (1) | CN112823391B (https=) |
| AU (1) | AU2020286376A1 (https=) |
| CA (1) | CA3115513A1 (https=) |
| WO (1) | WO2020247411A1 (https=) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2023552015A (ja) * | 2020-12-02 | 2023-12-14 | イルミナ ソフトウェア， インコーポレイテッド | 遺伝子変異を検出するためのシステム及び方法 |
| CN113643755B (zh) * | 2021-08-11 | 2023-10-13 | 上海小海龟科技有限公司 | 一种nipt试剂盒阳性率校正方法、装置、计算机设备和介质 |
| CN117095745B (zh) * | 2022-12-28 | 2025-12-12 | 安诺优达基因科技(北京)有限公司 | 用于检测孕妇血浆游离dna中胎儿非整倍体和拷贝数变异的方法和装置及应用 |
| SK289398B6 (sk) * | 2023-05-25 | 2026-01-14 | Medirex Group Academy N.O. | Metóda detekcie vzoriek s nedostatočným množstvom fragmentov fetálnej a cirkulujúcej nádorovej DNA na neinvazívne genetické testovanie |
Family Cites Families (18)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CA2615323A1 (en) | 2005-06-06 | 2007-12-21 | 454 Life Sciences Corporation | Paired end sequencing |
| US9163229B2 (en) | 2006-10-10 | 2015-10-20 | Trovagene, Inc. | Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media |
| US9029103B2 (en) | 2010-08-27 | 2015-05-12 | Illumina Cambridge Limited | Methods for sequencing polynucleotides |
| CN204440396U (zh) | 2012-04-12 | 2015-07-01 | 维里纳塔健康公司 | 用于确定胎儿分数的试剂盒 |
| WO2014151117A1 (en) * | 2013-03-15 | 2014-09-25 | The Board Of Trustees Of The Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| KR102665592B1 (ko) | 2013-05-24 | 2024-05-21 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| ES3037160T3 (en) | 2013-06-21 | 2025-09-29 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| CN105830077B (zh) * | 2013-10-21 | 2019-07-09 | 维里纳塔健康公司 | 用于在确定拷贝数变异中改善检测的灵敏度的方法 |
| CA2945962C (en) | 2014-04-21 | 2023-08-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| EP3730629A1 (en) * | 2014-10-10 | 2020-10-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| AU2015367290A1 (en) | 2014-12-16 | 2017-05-11 | Garvan Institute Of Medical Research | Sequencing controls |
| HUE058263T2 (hu) | 2015-02-10 | 2022-07-28 | Univ Hong Kong Chinese | Mutációk detektálása rákszûrési és magzatelemzési célból |
| WO2017093561A1 (en) | 2015-12-04 | 2017-06-08 | Genesupport Sa | Method for non-invasive prenatal testing |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| CA3016077A1 (en) | 2016-03-22 | 2017-09-28 | Counsyl, Inc. | Combinatorial dna screening |
| WO2018064486A1 (en) | 2016-09-29 | 2018-04-05 | Counsyl, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| WO2019025004A1 (en) | 2017-08-04 | 2019-02-07 | Trisomytest, S.R.O. | METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETUS SEX CHROMOSOMAL ABNORMALITY AND FETUS SEX DETERMINATION FOR SINGLE PREGNANCY AND GEEMELLAR PREGNANCY |
| GB2615975B (en) * | 2019-02-14 | 2023-11-29 | Mirvie Inc | Methods and systems for determining a pregnancy-related state of a subject |
-
2020
- 2020-06-02 JP JP2021517942A patent/JP7506060B2/ja active Active
- 2020-06-02 KR KR1020217009511A patent/KR20220013349A/ko active Pending
- 2020-06-02 EP EP20747200.2A patent/EP3977459A1/en not_active Withdrawn
- 2020-06-02 AU AU2020286376A patent/AU2020286376A1/en not_active Abandoned
- 2020-06-02 CN CN202080005447.1A patent/CN112823391B/zh active Active
- 2020-06-02 US US17/281,565 patent/US12260935B2/en active Active
- 2020-06-02 CA CA3115513A patent/CA3115513A1/en active Pending
- 2020-06-02 WO PCT/US2020/035787 patent/WO2020247411A1/en not_active Ceased
Also Published As
| Publication number | Publication date |
|---|---|
| JP2022534634A (ja) | 2022-08-03 |
| WO2020247411A1 (en) | 2020-12-10 |
| KR20220013349A (ko) | 2022-02-04 |
| AU2020286376A1 (en) | 2021-04-22 |
| CN112823391B (zh) | 2024-07-05 |
| US20210366569A1 (en) | 2021-11-25 |
| EP3977459A1 (en) | 2022-04-06 |
| CN112823391A (zh) | 2021-05-18 |
| US12260935B2 (en) | 2025-03-25 |
| JP7506060B2 (ja) | 2024-06-25 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US12217827B2 (en) | Detecting fetal sub-chromosomal aneuploidies | |
| AU2018375008B2 (en) | Methods and systems for determining somatic mutation clonality | |
| US20200335178A1 (en) | Detecting repeat expansions with short read sequencing data | |
| EP3061021B1 (en) | Method for improving the sensitivity of detection in determining copy number variations | |
| JP2019153332A (ja) | 性染色体におけるコピー数変異を判定するための方法 | |
| US12260935B2 (en) | Limit of detection based quality control metric | |
| US20220170010A1 (en) | System and method for detection of genetic alterations | |
| HK40047016A (en) | Limit of detection based quality control metric | |
| HK40047016B (zh) | 基於检测限的质量控制度量 | |
| HK40033718A (en) | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations | |
| HK1235436A1 (en) | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations | |
| HK1235436B (en) | Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations | |
| HK1228052A1 (en) | Method for improving the sensitivity of detection in determining copy number variations | |
| HK1228052B (en) | Method for improving the sensitivity of detection in determining copy number variations |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| W00 | Other event occurred |
Free format text: ST27 STATUS EVENT CODE: A-1-1-W10-W00-W100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: LETTER SENT Effective date: 20251205 |
|
| W00 | Other event occurred |
Free format text: ST27 STATUS EVENT CODE: A-1-1-W10-W00-W100 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: LETTER SENT Effective date: 20260129 |
|
| U13 | Renewal or maintenance fee not paid |
Free format text: ST27 STATUS EVENT CODE: N-6-6-U10-U13-U300 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: DEEMED ABANDONED - FAILURE TO RESPOND TO MAINTENANCE FEE NOTICE Effective date: 20260205 Free format text: ST27 STATUS EVENT CODE: N-1-6-U10-U13-U300 (AS PROVIDED BY THE NATIONAL OFFICE); EVENT TEXT: DEEMED ABANDONED - FAILURE TO RESPOND TO MAINTENANCE FEE NOTICE Effective date: 20260205 |