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Sequencing data automated analysis method and device, and electronic device

A technology for automatic analysis and sequencing data, applied in the field of data processing, which can solve problems such as hidden dangers of analysis stability, extended analysis cycle, and labor cost

Active Publication Date: 2019-05-24
ZHEJIANG ANNOROAD BIO TECH CO LTD +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, the analysis of data is manual operation, which consumes labor costs, prolongs the analysis cycle, and there are hidden dangers in the stability of the analysis.

Method used

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  • Sequencing data automated analysis method and device, and electronic device
  • Sequencing data automated analysis method and device, and electronic device
  • Sequencing data automated analysis method and device, and electronic device

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Embodiment Construction

[0032] Hereinafter, exemplary embodiments according to the present application will be described in detail with reference to the accompanying drawings. Apparently, the described embodiments are only some of the embodiments of the present application, rather than all the embodiments of the present application. It should be understood that the present application is not limited by the exemplary embodiments described here.

[0033] Definitions involved in the present invention:

[0034] 1) Reads: the plural of read, a short sequencing fragment sequence generated by a high-throughput sequencing platform.

[0035] 2) Unique reads: Refers to the reads that are uniquely aligned to the genome. During the sequencing process, some reads can be compared to multiple positions of the genome at the same time, and Unique reads filter out these multiple-aligned reads from all non-dup reads, and the rest are unique reads.

[0036] 3) Mapability: For some windows, the uniqueness of short sequen...

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PUM

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Abstract

The invention discloses a sequencing data automated analysis method and device, and an electronic device. The sequencing data automated analysis method includes the steps: acquiring raw data; receiving an analysis instruction from a user; acquiring batch data from the raw data based on the analysis instruction; splitting the batch data into sample data; and performing data quality control on the split sample data; and performing chromosomal aneuploidy and gene microdeletion analysis on each of the sample data being successful in data quality control, so as to obtain an analysis result. In thisway, chromosomal aneuploidy and gene microdeletion analysis results can be obtained directly from the raw data based on user instructions, so that the labor and time cost of chromosome analysis can be reduced and ease of use can be improved.

Description

technical field [0001] The present application relates to the field of data processing, and more specifically, relates to an automatic sequencing data analysis method, device and electronic equipment for chromosome abnormality detection. Background technique [0002] Chromosomes are carriers of genes, and chromosomal abnormalities often lead to abnormal gene expression and abnormal development of the body. The pathogenesis of chromosomal abnormalities is unknown, and it may be caused by the non-disjunction of chromosomes in the late stage of cell division or the breakage and reconnection of chromosomes under the influence of various factors in vivo and in vitro. Chromosomal abnormalities are divided into quantitative abnormalities and chromosome structural abnormalities. Chromosomal data abnormalities include euploid and aneuploid abnormalities, chromosome number increase, decrease, and triploid, etc. Chromosomal structural abnormalities include chromosome deletions, translo...

Claims

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Application Information

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IPC IPC(8): G16B20/20G16B30/00
CPCY02P90/30
Inventor 陈洋王红闫利叶李大为玄兆伶王海良王娟肖飞
Owner ZHEJIANG ANNOROAD BIO TECH CO LTD
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