JP2014530629A5 - - Google Patents
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- JP2014530629A5 JP2014530629A5 JP2014537440A JP2014537440A JP2014530629A5 JP 2014530629 A5 JP2014530629 A5 JP 2014530629A5 JP 2014537440 A JP2014537440 A JP 2014537440A JP 2014537440 A JP2014537440 A JP 2014537440A JP 2014530629 A5 JP2014530629 A5 JP 2014530629A5
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- Prior art keywords
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- reference sequence
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- dna
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- 238000000034 method Methods 0.000 claims description 29
- 238000012360 testing method Methods 0.000 claims description 21
- 238000004458 analytical method Methods 0.000 claims description 20
- 239000012634 fragment Substances 0.000 claims description 20
- 238000012163 sequencing technique Methods 0.000 claims description 16
- 108020004414 DNA Proteins 0.000 claims description 14
- 230000002759 chromosomal effect Effects 0.000 claims description 12
- 238000012217 deletion Methods 0.000 claims description 7
- 230000037430 deletion Effects 0.000 claims description 7
- 238000001514 detection method Methods 0.000 claims description 7
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 7
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 6
- 201000010099 disease Diseases 0.000 claims description 6
- 208000011580 syndromic disease Diseases 0.000 claims description 5
- 238000005516 engineering process Methods 0.000 claims description 4
- 238000012165 high-throughput sequencing Methods 0.000 claims description 2
- 239000007787 solid Substances 0.000 claims description 2
- 238000013467 fragmentation Methods 0.000 claims 3
- 238000006062 fragmentation reaction Methods 0.000 claims 3
- 230000006378 damage Effects 0.000 claims 2
- 239000000126 substance Substances 0.000 claims 2
- 102000004190 Enzymes Human genes 0.000 claims 1
- 108090000790 Enzymes Proteins 0.000 claims 1
- 238000000889 atomisation Methods 0.000 claims 1
- 210000000601 blood cell Anatomy 0.000 claims 1
- 238000010230 functional analysis Methods 0.000 claims 1
- 230000002068 genetic effect Effects 0.000 claims 1
- 238000007689 inspection Methods 0.000 claims 1
- 239000000523 sample Substances 0.000 description 35
- 210000000349 chromosome Anatomy 0.000 description 16
- 238000007405 data analysis Methods 0.000 description 6
- 230000035772 mutation Effects 0.000 description 5
- 108090000623 proteins and genes Proteins 0.000 description 5
- 210000001519 tissue Anatomy 0.000 description 3
- 238000007400 DNA extraction Methods 0.000 description 2
- 238000007838 multiplex ligation-dependent probe amplification Methods 0.000 description 2
- 239000013642 negative control Substances 0.000 description 2
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 1
- 208000031404 Chromosome Aberrations Diseases 0.000 description 1
- 238000000018 DNA microarray Methods 0.000 description 1
- 238000007476 Maximum Likelihood Methods 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- 210000004027 cell Anatomy 0.000 description 1
- 239000013611 chromosomal DNA Substances 0.000 description 1
- 230000000052 comparative effect Effects 0.000 description 1
- 238000010276 construction Methods 0.000 description 1
- 239000013068 control sample Substances 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- 238000013480 data collection Methods 0.000 description 1
- 230000006866 deterioration Effects 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 238000002405 diagnostic procedure Methods 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 230000001605 fetal effect Effects 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
- 238000007901 in situ hybridization Methods 0.000 description 1
- 230000004807 localization Effects 0.000 description 1
- 238000013178 mathematical model Methods 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000003672 processing method Methods 0.000 description 1
- 230000000306 recurrent effect Effects 0.000 description 1
- 230000003252 repetitive effect Effects 0.000 description 1
- 238000005070 sampling Methods 0.000 description 1
- 238000013519 translation Methods 0.000 description 1
- 238000012795 verification Methods 0.000 description 1
Images
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2014537440A JP2014530629A (ja) | 2011-10-28 | 2011-10-28 | 染色体の微細欠失及び微細重複を検出する方法 |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2014537440A JP2014530629A (ja) | 2011-10-28 | 2011-10-28 | 染色体の微細欠失及び微細重複を検出する方法 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2014530629A JP2014530629A (ja) | 2014-11-20 |
| JP2014530629A5 true JP2014530629A5 (enExample) | 2016-04-21 |
Family
ID=51938962
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014537440A Pending JP2014530629A (ja) | 2011-10-28 | 2011-10-28 | 染色体の微細欠失及び微細重複を検出する方法 |
Country Status (1)
| Country | Link |
|---|---|
| JP (1) | JP2014530629A (enExample) |
Families Citing this family (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN110462056B (zh) * | 2017-05-19 | 2023-08-29 | 深圳华大生命科学研究院 | 基于dna测序数据的样本来源检测方法、装置和存储介质 |
| CN114220481B (zh) * | 2021-11-25 | 2023-09-08 | 深圳思勤医疗科技有限公司 | 基于全基因组测序完成待测样本的核型分析的方法、系统和计算机可读介质 |
| CN114592056A (zh) * | 2022-04-15 | 2022-06-07 | 常州市妇幼保健院 | 22q11微缺失和/或微重复检测引物组、引物探针组合物、试剂盒及其应用 |
-
2011
- 2011-10-28 JP JP2014537440A patent/JP2014530629A/ja active Pending
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