CN113270138B - Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics - Google Patents
Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics Download PDFInfo
- Publication number
- CN113270138B CN113270138B CN202110397074.3A CN202110397074A CN113270138B CN 113270138 B CN113270138 B CN 113270138B CN 202110397074 A CN202110397074 A CN 202110397074A CN 113270138 B CN113270138 B CN 113270138B
- Authority
- CN
- China
- Prior art keywords
- reads
- bin
- fetal
- chromosome
- fragment
- 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.)
- Active
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
- G16B20/30—Detection of binding sites or motifs
-
- 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
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] 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
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
Landscapes
- Physics & Mathematics (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Engineering & Computer Science (AREA)
- Theoretical Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Molecular Biology (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- Analytical Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Genetics & Genomics (AREA)
- Chemical & Material Sciences (AREA)
- Physiology (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
Description
Claims (3)
Priority Applications (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN202110397074.3A CN113270138B (en) | 2021-04-13 | 2021-04-13 | Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics |
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN202110397074.3A CN113270138B (en) | 2021-04-13 | 2021-04-13 | Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics |
Publications (2)
Publication Number | Publication Date |
---|---|
CN113270138A CN113270138A (en) | 2021-08-17 |
CN113270138B true CN113270138B (en) | 2023-09-22 |
Family
ID=77228831
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CN202110397074.3A Active CN113270138B (en) | 2021-04-13 | 2021-04-13 | Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics |
Country Status (1)
Country | Link |
---|---|
CN (1) | CN113270138B (en) |
Citations (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN106591451A (en) * | 2016-12-14 | 2017-04-26 | 北京贝瑞和康生物技术股份有限公司 | Method for detecting content of fetal-free DNA, and apparatus for enforcing method |
WO2017093561A1 (en) * | 2015-12-04 | 2017-06-08 | Genesupport Sa | Method for non-invasive prenatal testing |
CN107133495A (en) * | 2017-05-04 | 2017-09-05 | 北京医院 | A kind of analysis method and analysis system of aneuploidy biological information |
CN108573125A (en) * | 2018-04-19 | 2018-09-25 | 上海亿康医学检验所有限公司 | Method for detecting genome copy number variation and device comprising same |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US10095831B2 (en) * | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
-
2021
- 2021-04-13 CN CN202110397074.3A patent/CN113270138B/en active Active
Patent Citations (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2017093561A1 (en) * | 2015-12-04 | 2017-06-08 | Genesupport Sa | Method for non-invasive prenatal testing |
CN106591451A (en) * | 2016-12-14 | 2017-04-26 | 北京贝瑞和康生物技术股份有限公司 | Method for detecting content of fetal-free DNA, and apparatus for enforcing method |
CN107133495A (en) * | 2017-05-04 | 2017-09-05 | 北京医院 | A kind of analysis method and analysis system of aneuploidy biological information |
CN108573125A (en) * | 2018-04-19 | 2018-09-25 | 上海亿康医学检验所有限公司 | Method for detecting genome copy number variation and device comprising same |
Non-Patent Citations (2)
Title |
---|
Maternal plasma fetal DNA fractions in pregnancies withlow and high risks for fetal chromosomal aneuploidies;Hudecova, I., et al.;《PLOS ONE》;第9卷(第2期);全文 * |
二代测序技术在流产物染色体拷贝数改变检测中的应用;梅瑾;王昊;王敏;何茶英;;浙江医学(02);全文 * |
Also Published As
Publication number | Publication date |
---|---|
CN113270138A (en) | 2021-08-17 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
CN112669901A (en) | Chromosome copy number variation detection device based on low-depth high-throughput genome sequencing | |
CN107949845B (en) | Computer system capable of distinguishing fetal gender from fetal sex chromosome abnormalities on multiple next generation sequencing platforms | |
CN110910957B (en) | Single-tumor-sample-based high-throughput sequencing microsatellite instability detection site screening method | |
CN109887546B (en) | Single-gene or multi-gene copy number detection system and method based on next-generation sequencing | |
JP6623400B2 (en) | Kit, device and method for measuring chromosomal aneuploidy | |
CN109979529B (en) | CNV detection device | |
CN110648722B (en) | Device for evaluating neonatal genetic disease risk | |
WO2019213811A1 (en) | Method, apparatus, and system for detecting chromosomal aneuploidy | |
CN115064211A (en) | ctDNA prediction method based on whole genome methylation sequencing and application thereof | |
CN113160889A (en) | Cancer noninvasive early screening method based on cfDNA omics characteristics | |
WO2024139499A1 (en) | Method for detecting chromosome copy-number variant | |
CN108268752B (en) | A kind of chromosome abnormality detection device | |
CN116189763A (en) | Single sample copy number variation detection method based on second generation sequencing | |
CN117524301B (en) | Copy number variation detection method, device and computer readable medium | |
WO2024140881A1 (en) | Method and device for determining fetal dna concentration | |
CN113270138B (en) | Analysis method for enriching fetal free DNA (deoxyribonucleic acid) for copy number variation based on bioinformatics | |
WO2020124625A1 (en) | Ctdna-based gene detection method and apparatus, storage medium, and computer system | |
CN111696622B (en) | Method for correcting and evaluating detection result of mutation detection software | |
CN112712853A (en) | Noninvasive prenatal detection device | |
CN115240764A (en) | Tumor gene detection system and data processing method | |
KR102347463B1 (en) | Method and appartus for detecting false positive variants in nucleic acid sequencing analysis | |
CN110970089A (en) | Preprocessing method and preprocessing device for fetal concentration calculation and application of preprocessing method and device | |
WO2016176846A1 (en) | Reagent kit, apparatus, and method for detecting chromosome aneuploidy | |
CN114242164B (en) | Analysis method, device and storage medium for whole genome replication | |
CN115497557A (en) | Method and device for detecting gene copy number variation aiming at targeted sequencing |
Legal Events
Date | Code | Title | Description |
---|---|---|---|
PB01 | Publication | ||
PB01 | Publication | ||
SE01 | Entry into force of request for substantive examination | ||
SE01 | Entry into force of request for substantive examination | ||
CB03 | Change of inventor or designer information |
Inventor after: Xu Xiong Inventor after: Hu Dahui Inventor after: Ding Linfeng Inventor after: Xiao Rui Inventor after: Li Haibo Inventor after: Shi Danhua Inventor after: Tian Liyun Inventor after: Xu Jun Inventor after: Qiu Haiyan Inventor before: Xu Xiong Inventor before: Hu Dahui Inventor before: Ding Lingfeng Inventor before: Xiao Rui Inventor before: Li Haibo Inventor before: Shi Danhua Inventor before: Tian Liyun Inventor before: Xu Jun Inventor before: Qiu Haiyan |
|
CB03 | Change of inventor or designer information | ||
GR01 | Patent grant | ||
GR01 | Patent grant |