CN110211630A - 致病性单亲二倍体的筛查装置及存储介质和处理器 - Google Patents
致病性单亲二倍体的筛查装置及存储介质和处理器 Download PDFInfo
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- 238000012216 screening Methods 0.000 title claims abstract description 62
- 230000001717 pathogenic effect Effects 0.000 title claims abstract description 30
- 208000031655 Uniparental Disomy Diseases 0.000 title claims abstract description 21
- 230000035772 mutation Effects 0.000 claims abstract description 57
- 210000000349 chromosome Anatomy 0.000 claims abstract description 33
- 108090000623 proteins and genes Proteins 0.000 claims abstract description 23
- 238000012163 sequencing technique Methods 0.000 claims abstract description 15
- 230000000869 mutational effect Effects 0.000 claims abstract description 13
- 238000012217 deletion Methods 0.000 claims abstract description 12
- 230000037430 deletion Effects 0.000 claims abstract description 12
- 239000012634 fragment Substances 0.000 claims abstract description 12
- 238000000034 method Methods 0.000 claims description 14
- 238000003908 quality control method Methods 0.000 claims description 12
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 10
- 210000002593 Y chromosome Anatomy 0.000 claims description 9
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- 108700028369 Alleles Proteins 0.000 claims 1
- 238000001514 detection method Methods 0.000 abstract description 7
- 238000002474 experimental method Methods 0.000 abstract description 4
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- 101150033839 4 gene Proteins 0.000 description 1
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
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- 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
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- 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
- G16B20/50—Mutagenesis
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
- G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/70—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for mining of medical data, e.g. analysing previous cases of other patients
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CN201910491767.1A CN110211630B (zh) | 2019-06-06 | 2019-06-06 | 致病性单亲二倍体的筛查装置及存储介质和处理器 |
PCT/CN2020/094125 WO2020244538A1 (zh) | 2019-06-06 | 2020-06-03 | 致病性单亲二倍体的筛查方法及应用 |
US17/616,714 US20220328131A1 (en) | 2019-06-06 | 2020-06-03 | Method for screening pathogenic uniparental disomy and use thereof |
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CN201910491767.1A CN110211630B (zh) | 2019-06-06 | 2019-06-06 | 致病性单亲二倍体的筛查装置及存储介质和处理器 |
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CN110211630A true CN110211630A (zh) | 2019-09-06 |
CN110211630B CN110211630B (zh) | 2020-03-20 |
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US (1) | US20220328131A1 (zh) |
CN (1) | CN110211630B (zh) |
WO (1) | WO2020244538A1 (zh) |
Cited By (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN111863125A (zh) * | 2020-08-04 | 2020-10-30 | 广州金域医学检验中心有限公司 | 基于NGS-trio的单亲二倍体检测方法及应用 |
WO2020244538A1 (zh) * | 2019-06-06 | 2020-12-10 | 广州金域医学检验中心有限公司 | 致病性单亲二倍体的筛查方法及应用 |
CN112687336A (zh) * | 2021-03-11 | 2021-04-20 | 北京贝瑞和康生物技术有限公司 | 确定upd类型的方法、计算设备和存储介质 |
CN113066529A (zh) * | 2021-03-26 | 2021-07-02 | 四川大学华西医院 | 基于全外显子数据的近亲家系鉴定方法、装置及设备 |
WO2022027212A1 (zh) * | 2020-08-04 | 2022-02-10 | 广州金域医学检验中心有限公司 | 基于NGS-trio的单亲二倍体检测方法及应用 |
CN115394357A (zh) * | 2022-09-01 | 2022-11-25 | 杭州链康医学检验实验室有限公司 | 用于判断样本配对或污染的位点组合及其筛选方法和应用 |
Citations (5)
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WO2011083312A1 (en) * | 2010-01-08 | 2011-07-14 | Oxford Gene Technology (Operations) Ltd | Combined cgh & allele-specific hybridisation method |
US20110301854A1 (en) * | 2010-06-08 | 2011-12-08 | Curry Bo U | Method of Determining Allele-Specific Copy Number of a SNP |
US20130230221A1 (en) * | 2011-11-29 | 2013-09-05 | Affymetrix, Inc. | Analysis of Data Obtained from Microarrays |
CN106021984A (zh) * | 2016-05-13 | 2016-10-12 | 万康源(天津)基因科技有限公司 | 一种全外显子组测序数据分析系统 |
KR101721480B1 (ko) * | 2016-06-02 | 2017-03-30 | 주식회사 랩 지노믹스 | 염색체 이상 검사 방법 및 시스템 |
Family Cites Families (2)
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DE102004005497B4 (de) * | 2004-01-30 | 2007-01-11 | Eberhard-Karls-Universität Tübingen Universitätsklinikum | Diagnose von uniparentaler Disomie anhand von Single-Nukleotid-Polymorphismen |
CN110211630B (zh) * | 2019-06-06 | 2020-03-20 | 广州金域医学检验中心有限公司 | 致病性单亲二倍体的筛查装置及存储介质和处理器 |
-
2019
- 2019-06-06 CN CN201910491767.1A patent/CN110211630B/zh active Active
-
2020
- 2020-06-03 US US17/616,714 patent/US20220328131A1/en active Pending
- 2020-06-03 WO PCT/CN2020/094125 patent/WO2020244538A1/zh active Application Filing
Patent Citations (5)
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WO2011083312A1 (en) * | 2010-01-08 | 2011-07-14 | Oxford Gene Technology (Operations) Ltd | Combined cgh & allele-specific hybridisation method |
US20110301854A1 (en) * | 2010-06-08 | 2011-12-08 | Curry Bo U | Method of Determining Allele-Specific Copy Number of a SNP |
US20130230221A1 (en) * | 2011-11-29 | 2013-09-05 | Affymetrix, Inc. | Analysis of Data Obtained from Microarrays |
CN106021984A (zh) * | 2016-05-13 | 2016-10-12 | 万康源(天津)基因科技有限公司 | 一种全外显子组测序数据分析系统 |
KR101721480B1 (ko) * | 2016-06-02 | 2017-03-30 | 주식회사 랩 지노믹스 | 염색체 이상 검사 방법 및 시스템 |
Non-Patent Citations (5)
Title |
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CARL FRIEDRICH CLASSEN等: ""Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis"", 《HUM GENET》 * |
MANNY D. BACOLOD等: ""Emerging Paradigms in Cancer Genetics: Some Important Findings from High-Density Single Nucleotide Polymorphism Array Studies"", 《CANCER RES》 * |
YAO-SHAN FAN等: ""Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray"", 《MOLECULAR CYTOGENETICS》 * |
付斌: "《再生障碍性贫血临床医师诊疗手册》", 30 April 2018, 上海世界图书出版公司 * |
贾静等: ""单亲二倍体染色体异常的研究进展"", 《国际生殖健康/计划生育杂志》 * |
Cited By (9)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2020244538A1 (zh) * | 2019-06-06 | 2020-12-10 | 广州金域医学检验中心有限公司 | 致病性单亲二倍体的筛查方法及应用 |
CN111863125A (zh) * | 2020-08-04 | 2020-10-30 | 广州金域医学检验中心有限公司 | 基于NGS-trio的单亲二倍体检测方法及应用 |
WO2022027212A1 (zh) * | 2020-08-04 | 2022-02-10 | 广州金域医学检验中心有限公司 | 基于NGS-trio的单亲二倍体检测方法及应用 |
CN111863125B (zh) * | 2020-08-04 | 2024-04-12 | 广州金域医学检验中心有限公司 | 基于NGS-trio的单亲二倍体检测方法及应用 |
CN112687336A (zh) * | 2021-03-11 | 2021-04-20 | 北京贝瑞和康生物技术有限公司 | 确定upd类型的方法、计算设备和存储介质 |
CN112687336B (zh) * | 2021-03-11 | 2021-06-22 | 北京贝瑞和康生物技术有限公司 | 确定upd类型的方法、计算设备和存储介质 |
CN113066529A (zh) * | 2021-03-26 | 2021-07-02 | 四川大学华西医院 | 基于全外显子数据的近亲家系鉴定方法、装置及设备 |
CN113066529B (zh) * | 2021-03-26 | 2023-08-18 | 四川大学华西医院 | 基于全外显子数据的近亲家系鉴定方法、装置及设备 |
CN115394357A (zh) * | 2022-09-01 | 2022-11-25 | 杭州链康医学检验实验室有限公司 | 用于判断样本配对或污染的位点组合及其筛选方法和应用 |
Also Published As
Publication number | Publication date |
---|---|
US20220328131A1 (en) | 2022-10-13 |
WO2020244538A1 (zh) | 2020-12-10 |
CN110211630B (zh) | 2020-03-20 |
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