CN110570907B - 建立检测微卫星不稳定的基线及模型的方法与应用 - Google Patents
建立检测微卫星不稳定的基线及模型的方法与应用 Download PDFInfo
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- CN110570907B CN110570907B CN201910833273.7A CN201910833273A CN110570907B CN 110570907 B CN110570907 B CN 110570907B CN 201910833273 A CN201910833273 A CN 201910833273A CN 110570907 B CN110570907 B CN 110570907B
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- 108091092878 Microsatellite Proteins 0.000 title claims abstract description 282
- 238000000034 method Methods 0.000 title claims abstract description 73
- 238000012163 sequencing technique Methods 0.000 claims abstract description 62
- 238000001514 detection method Methods 0.000 claims abstract description 46
- 210000000601 blood cell Anatomy 0.000 claims abstract description 25
- 208000032818 Microsatellite Instability Diseases 0.000 claims description 38
- 238000010801 machine learning Methods 0.000 claims description 27
- 238000004422 calculation algorithm Methods 0.000 claims description 16
- 238000012216 screening Methods 0.000 claims description 15
- 238000012217 deletion Methods 0.000 claims description 4
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- 238000007637 random forest analysis Methods 0.000 claims description 4
- 230000035945 sensitivity Effects 0.000 abstract description 13
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- 238000004458 analytical method Methods 0.000 description 6
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Classifications
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- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F18/00—Pattern recognition
- G06F18/20—Analysing
- G06F18/24—Classification techniques
- G06F18/243—Classification techniques relating to the number of classes
- G06F18/24323—Tree-organised classifiers
-
- 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
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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
- 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
Abstract
Description
chr | start | end | MS | repeat | MSID |
chr1 | 8074168 | 8074175 | AG | 4 | MS1 |
chr1 | 11182071 | 11182082 | TCT | 4 | MS2 |
chr1 | 16203144 | 16203155 | CAG | 4 | MS3 |
chr1 | 16255142 | 16255153 | GA | 6 | MS4 |
chr1 | 16256107 | 16256114 | AG | 4 | MS5 |
chr1 | 16262695 | 16262702 | CA | 4 | MS6 |
chr1 | 27022940 | 27022954 | CCG | 5 | MS7 |
chr1 | 27022977 | 27022988 | AGC | 4 | MS8 |
chr1 | 27023008 | 27023022 | GGC | 5 | MS9 |
… | … | … | … | … | … |
MSID | qcs | Average_Total_Reads | Count |
MS1 | pass | 302.3529412 | 51 |
MS2 | pass | 236.2156863 | 51 |
MS3 | pass | 234.4705882 | 51 |
MS4 | pass | 200.8235294 | 51 |
MS5 | pass | 199.627451 | 51 |
MS6 | pass | 481.7254902 | 51 |
MS7 | pass | 131.3333333 | 51 |
MS8 | pass | 133.9803922 | 51 |
MS9 | pass | 125.96 | 50 |
… | … | … | … |
样本 | 为MIS-H的概率 |
180504253T1 | 0.9 |
Claims (11)
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Families Citing this family (6)
Publication number | Priority date | Publication date | Assignee | Title |
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CN110797078A (zh) * | 2020-01-06 | 2020-02-14 | 北京吉因加科技有限公司 | 微卫星不稳定位点筛选、分析模型的构建方法及装置 |
CN111583999B (zh) * | 2020-04-24 | 2023-08-18 | 北京优迅医学检验实验室有限公司 | 建立检测微卫星不稳定的基线的方法、装置及应用 |
CN111785324B (zh) * | 2020-07-02 | 2021-02-02 | 深圳市海普洛斯生物科技有限公司 | 一种微卫星不稳定分析方法及装置 |
CN112365922B (zh) * | 2021-01-13 | 2021-06-15 | 臻和(北京)生物科技有限公司 | 用于检测msi的微卫星位点、其筛选方法及应用 |
CN113744251B (zh) * | 2021-09-07 | 2023-08-29 | 上海桐树生物科技有限公司 | 基于自注意力机制从病理图片预测微卫星不稳定性的方法 |
CN114708916B (zh) * | 2022-03-15 | 2023-11-10 | 至本医疗科技(上海)有限公司 | 微卫星稳定性的检测方法、检测装置、计算机设备及存储介质 |
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WO2013166517A1 (en) * | 2012-05-04 | 2013-11-07 | Complete Genomics, Inc. | Methods for determining absolute genome-wide copy number variations of complex tumors |
CN114272371A (zh) * | 2015-07-29 | 2022-04-05 | 诺华股份有限公司 | 包含抗pd-1抗体分子的联合疗法 |
CN109207594B (zh) * | 2018-09-29 | 2020-09-25 | 广州燃石医学检验所有限公司 | 一种基于二代测序的通过血浆检测微卫星稳定状态和基因组变化的方法 |
CN109182525B (zh) * | 2018-09-29 | 2019-09-06 | 广州燃石医学检验所有限公司 | 一种微卫星生物标志物组合、检测试剂盒及其用途 |
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