CN110191964A - 确定生物样本中预定来源的游离核酸比例的方法及装置 - Google Patents
确定生物样本中预定来源的游离核酸比例的方法及装置 Download PDFInfo
- Publication number
- CN110191964A CN110191964A CN201880006995.9A CN201880006995A CN110191964A CN 110191964 A CN110191964 A CN 110191964A CN 201880006995 A CN201880006995 A CN 201880006995A CN 110191964 A CN110191964 A CN 110191964A
- Authority
- CN
- China
- Prior art keywords
- sequencing
- nucleic acid
- window
- predetermined
- layer
- 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
- 108020004707 nucleic acids Proteins 0.000 title claims abstract description 140
- 150000007523 nucleic acids Chemical class 0.000 title claims abstract description 140
- 102000039446 nucleic acids Human genes 0.000 title claims abstract description 140
- 238000000034 method Methods 0.000 title claims abstract description 79
- 239000012472 biological sample Substances 0.000 title claims abstract description 54
- 238000012163 sequencing technique Methods 0.000 claims abstract description 140
- 230000001605 fetal effect Effects 0.000 claims description 88
- 210000002569 neuron Anatomy 0.000 claims description 66
- 206010028980 Neoplasm Diseases 0.000 claims description 60
- 239000000523 sample Substances 0.000 claims description 53
- 210000005259 peripheral blood Anatomy 0.000 claims description 50
- 239000011886 peripheral blood Substances 0.000 claims description 50
- 210000003754 fetus Anatomy 0.000 claims description 42
- 238000012549 training Methods 0.000 claims description 36
- 210000000349 chromosome Anatomy 0.000 claims description 34
- 238000003062 neural network model Methods 0.000 claims description 33
- 238000013179 statistical model Methods 0.000 claims description 20
- 210000002593 Y chromosome Anatomy 0.000 claims description 16
- 238000012937 correction Methods 0.000 claims description 15
- 230000008774 maternal effect Effects 0.000 claims description 15
- 238000005457 optimization Methods 0.000 claims description 13
- 238000004364 calculation method Methods 0.000 claims description 7
- 230000008569 process Effects 0.000 claims description 3
- 238000000638 solvent extraction Methods 0.000 claims 2
- 241001269238 Data Species 0.000 abstract 1
- 238000013528 artificial neural network Methods 0.000 description 14
- 230000000694 effects Effects 0.000 description 13
- 108020004414 DNA Proteins 0.000 description 12
- 238000012360 testing method Methods 0.000 description 10
- 230000006870 function Effects 0.000 description 7
- 238000001914 filtration Methods 0.000 description 4
- 238000010219 correlation analysis Methods 0.000 description 3
- 238000010586 diagram Methods 0.000 description 3
- 239000012634 fragment Substances 0.000 description 3
- ORILYTVJVMAKLC-UHFFFAOYSA-N Adamantane Natural products C1C(C2)CC3CC1CC2C3 ORILYTVJVMAKLC-UHFFFAOYSA-N 0.000 description 2
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 2
- 201000011510 cancer Diseases 0.000 description 2
- 230000008859 change Effects 0.000 description 2
- 238000002790 cross-validation Methods 0.000 description 2
- 238000001514 detection method Methods 0.000 description 2
- 239000000463 material Substances 0.000 description 2
- 108090000623 proteins and genes Proteins 0.000 description 2
- 229920006395 saturated elastomer Polymers 0.000 description 2
- IOSROLCFSUFOFE-UHFFFAOYSA-L 2-nitro-1h-imidazole;platinum(2+);dichloride Chemical compound [Cl-].[Cl-].[Pt+2].[O-][N+](=O)C1=NC=CN1.[O-][N+](=O)C1=NC=CN1 IOSROLCFSUFOFE-UHFFFAOYSA-L 0.000 description 1
- 208000036830 Normal foetus Diseases 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 238000003556 assay Methods 0.000 description 1
- 230000017531 blood circulation Effects 0.000 description 1
- 239000003153 chemical reaction reagent Substances 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 238000007429 general method Methods 0.000 description 1
- 230000006872 improvement Effects 0.000 description 1
- 238000010801 machine learning Methods 0.000 description 1
- 239000003550 marker Substances 0.000 description 1
- 230000011987 methylation Effects 0.000 description 1
- 238000007069 methylation reaction Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 239000002773 nucleotide Substances 0.000 description 1
- 125000003729 nucleotide group Chemical group 0.000 description 1
- 230000008775 paternal effect Effects 0.000 description 1
- 210000003819 peripheral blood mononuclear cell Anatomy 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 230000004044 response Effects 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
- 238000012795 verification Methods 0.000 description 1
Classifications
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12M—APPARATUS FOR ENZYMOLOGY OR MICROBIOLOGY; APPARATUS FOR CULTURING MICROORGANISMS FOR PRODUCING BIOMASS, FOR GROWING CELLS OR FOR OBTAINING FERMENTATION OR METABOLIC PRODUCTS, i.e. BIOREACTORS OR FERMENTERS
- C12M1/00—Apparatus for enzymology or microbiology
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biotechnology (AREA)
- Genetics & Genomics (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- General Health & Medical Sciences (AREA)
- General Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Biophysics (AREA)
- Molecular Biology (AREA)
- Immunology (AREA)
- Analytical Chemistry (AREA)
- Medicinal Chemistry (AREA)
- Biomedical Technology (AREA)
- Sustainable Development (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Abstract
本发明公开了确定生物样本中预定来源的游离核酸比例的方法及装置,包括:(1)对含有游离核酸的生物样本进行核酸测序,以便获得由多个测序数据构成的测序结果;(2)将所述测序结果与参照序列比对,以便确定所述测序结果中落入预定窗口的测序数据的数目;以及(3)基于所述落入预定窗口的测序数据的数目,确定所述生物样本中预定来源的游离核酸比例。
Description
PCT国内申请,说明书已公开。
Claims (56)
- PCT国内申请,权利要求书已公开。
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
CN2017100552000 | 2017-01-24 | ||
CN201710055200 | 2017-01-24 | ||
PCT/CN2018/072045 WO2018137496A1 (zh) | 2017-01-24 | 2018-01-10 | 确定生物样本中预定来源的游离核酸比例的方法及装置 |
Publications (2)
Publication Number | Publication Date |
---|---|
CN110191964A true CN110191964A (zh) | 2019-08-30 |
CN110191964B CN110191964B (zh) | 2023-12-05 |
Family
ID=62978786
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CN201880006995.9A Active CN110191964B (zh) | 2017-01-24 | 2018-01-10 | 确定生物样本中预定来源的游离核酸比例的方法及装置 |
Country Status (3)
Country | Link |
---|---|
EP (1) | EP3575407B1 (zh) |
CN (1) | CN110191964B (zh) |
WO (1) | WO2018137496A1 (zh) |
Cited By (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN114882944A (zh) * | 2022-06-22 | 2022-08-09 | 珠海碳云智能科技有限公司 | 基于Metagenome测序的肠道微生物样品宿主性别鉴定方法、装置及应用 |
CN117106870A (zh) * | 2022-12-30 | 2023-11-24 | 深圳市真迈生物科技有限公司 | 胎儿浓度的确定方法及装置 |
Families Citing this family (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN109272046A (zh) * | 2018-09-26 | 2019-01-25 | 北京科技大学 | 基于L2重新正则化Adam切换模拟回火SGD的深度学习方法 |
CN112669282B (zh) * | 2020-12-29 | 2023-02-14 | 燕山大学 | 一种基于深度神经网络的脊柱定位方法 |
Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20150275290A1 (en) * | 2012-10-31 | 2015-10-01 | Genesupport Sa | Non-invasive method for detecting a fetal chromosomal aneuploidy |
WO2016011982A1 (zh) * | 2014-07-25 | 2016-01-28 | 深圳华大基因股份有限公司 | 确定生物样本中游离核酸比例的方法、装置及其用途 |
CN105331606A (zh) * | 2014-08-12 | 2016-02-17 | 焦少灼 | 应用于高通量测序的核酸分子定量方法 |
Family Cites Families (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN102329876B (zh) * | 2011-10-14 | 2014-04-02 | 深圳华大基因科技有限公司 | 一种测定待检测样本中疾病相关核酸分子的核苷酸序列的方法 |
NZ717423A (en) * | 2012-09-20 | 2017-08-25 | Univ Hong Kong Chinese | Non-invasive determination of methylome of fetus or tumor from plasma |
WO2015035555A1 (zh) * | 2013-09-10 | 2015-03-19 | 深圳华大基因科技有限公司 | 用于确定胎儿是否存在性染色体数目异常的方法、系统和计算机可读介质 |
-
2018
- 2018-01-10 EP EP18743980.7A patent/EP3575407B1/en active Active
- 2018-01-10 CN CN201880006995.9A patent/CN110191964B/zh active Active
- 2018-01-10 WO PCT/CN2018/072045 patent/WO2018137496A1/zh unknown
Patent Citations (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20150275290A1 (en) * | 2012-10-31 | 2015-10-01 | Genesupport Sa | Non-invasive method for detecting a fetal chromosomal aneuploidy |
WO2016011982A1 (zh) * | 2014-07-25 | 2016-01-28 | 深圳华大基因股份有限公司 | 确定生物样本中游离核酸比例的方法、装置及其用途 |
CN105296606A (zh) * | 2014-07-25 | 2016-02-03 | 深圳华大基因股份有限公司 | 确定生物样本中游离核酸比例的方法、装置及其用途 |
CN105331606A (zh) * | 2014-08-12 | 2016-02-17 | 焦少灼 | 应用于高通量测序的核酸分子定量方法 |
Non-Patent Citations (2)
Title |
---|
STEPHANIE C Y YU ET AL.: "Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing", 《PROC NATL ACAD SCI U S A.》 * |
STEPHANIE C Y YU ET AL.: "Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing", 《PROC NATL ACAD SCI U S A.》, 10 June 2014 (2014-06-10), pages 8583 - 8588 * |
Cited By (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN114882944A (zh) * | 2022-06-22 | 2022-08-09 | 珠海碳云智能科技有限公司 | 基于Metagenome测序的肠道微生物样品宿主性别鉴定方法、装置及应用 |
CN117106870A (zh) * | 2022-12-30 | 2023-11-24 | 深圳市真迈生物科技有限公司 | 胎儿浓度的确定方法及装置 |
Also Published As
Publication number | Publication date |
---|---|
EP3575407B1 (en) | 2024-03-27 |
EP3575407A4 (en) | 2020-03-04 |
WO2018137496A1 (zh) | 2018-08-02 |
CN110191964B (zh) | 2023-12-05 |
EP3575407A1 (en) | 2019-12-04 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
CN112020565B (zh) | 用于确保基于测序的测定的有效性的质量控制模板 | |
CN110191964A (zh) | 确定生物样本中预定来源的游离核酸比例的方法及装置 | |
WO2016011982A1 (zh) | 确定生物样本中游离核酸比例的方法、装置及其用途 | |
IL249095B2 (en) | Detection of subchromosomal aneuploidy in the fetus and variations in the number of copies | |
US11710540B2 (en) | Multi-level architecture of pattern recognition in biological data | |
US20230268025A1 (en) | Target-associated molecules for characterization associated with biological targets | |
IL258999A (en) | Methods for detecting copy-number variations in next-generation sequencing | |
US20210166813A1 (en) | Systems and methods for evaluating longitudinal biological feature data | |
JP7467504B2 (ja) | 染色体異数性を判定するためおよび分類モデルを構築するための方法およびデバイス | |
US20180300451A1 (en) | Techniques for fractional component fragment-size weighted correction of count and bias for massively parallel DNA sequencing | |
CN110890131B (zh) | 一种基于遗传性基因突变预测癌症风险的方法 | |
US20180247019A1 (en) | Method for determining whether cells or cell groups are derived from same person, or unrelated persons, or parent and child, or persons in blood relationship | |
US20240038330A1 (en) | Computer-implemented method and apparatus for analysing genetic data | |
EP3635138B1 (en) | Method for analysing cell-free nucleic acids | |
CN117809741B (zh) | 一种基于分子进化选择压预测癌症特征基因的方法与装置 | |
WO2023010242A1 (zh) | 估计无创产前基因检测数据中胎儿核酸浓度的方法和系统 | |
CN111433855A (zh) | 筛查系统和方法 | |
Reiser et al. | Can matching improve the performance of boosting for identifying important genes in observational studies? | |
Ahir | Semi-supervised learning for pancreas cancer survival analysis | |
CN117106870A (zh) | 胎儿浓度的确定方法及装置 | |
Zhou et al. | A Bayesian model averaging approach for observational gene expression studies | |
CN111748631A (zh) | 一种特征miRNA表达谱组合及肝癌早期预测方法 | |
WO2024020036A1 (en) | Dynamically selecting sequencing subregions for cancer classification | |
Andrés Galiana | Biomedical robots. Application to transnational medicine | |
ElBakry | Analysis of Gene Expression Microarray Time Series Data |
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 | ||
REG | Reference to a national code |
Ref country code: HK Ref legal event code: DE Ref document number: 40010535 Country of ref document: HK |
|
GR01 | Patent grant | ||
GR01 | Patent grant |