CYP21A2 gene NGS data analysis method and device and application

A CYP21A2 and gene technology, applied in genomics, sequence analysis, instruments, etc., can solve the problems of limiting the application of NGS and the inability to accurately and effectively detect mutations of highly homologous genes

Pending Publication Date: 2021-11-30
TIANJIN MEDICAL LAB BGI +1
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  • Claims
  • Application Information

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Problems solved by technology

However, NGS data cannot accurately and effectively detect highly homologous g...

Method used

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  • CYP21A2 gene NGS data analysis method and device and application
  • CYP21A2 gene NGS data analysis method and device and application
  • CYP21A2 gene NGS data analysis method and device and application

Examples

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Embodiment

[0062] 1. Mutation analysis of CYP21A2 gene based on high-throughput sequencing data

[0063] In this experiment, the DNA of 179 clinical samples was obtained for high-throughput sequencing, and then the high-throughput sequencing data were analyzed. For all DNA samples, use a specific panel probe, that is, #xGen Lockdown Probe-pp150V1, follow the operating instructions of the BGISEQ|MGISEQ sequencing platform to capture and build a library, and perform sequencing on a gene sequencer (BGISEQ|MGISEQ) to obtain Qualcomm The raw data of quantitative sequencing.

[0064] The method of NGS data analysis of CYP21A2 gene in this example is as follows:

[0065] The high-throughput sequencing data filtering step is to filter the raw data obtained by sequencing. The filtering principles include: the number of bases with a base quality value ≤ 10 accounts for > 50% of the total bases in the sequence, and the sequence with an average quality 10% were filtered to obtain high-quality sequ...

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Abstract

The invention discloses a CYP21A2 gene NGS data analysis method and device and application. The method comprises the steps: setting a window and a sliding window for a chip capture area, performing the depth correction according to the depth of each window and GC content, and calculating the copy number of each window according to a hidden horse model for the corrected depth; counting CYP21A2 gene region sequences, selecting paired sequences, judging bases of a target site and an auxiliary site according to the positions of the target site and the auxiliary site in a paired sequence interval, and judging whether the paired sequences support true gene mutation or not by contrasting bases at true and false genes of the target site of a reference sequence; setting a threshold value by comparing with each site according to a copy number correction value of the sample to be detected, and determining the sample smaller than the threshold value as a mutation candidate sample; synthesizing the results, adding mutation site numbers of all samples to prompt CNV, and obtaining CNV and point mutation results of the CYP21A2 gene. According to the method disclosed by the invention, the copy number variation and point mutation information of the CYP21A2 gene can be accurately and effectively obtained by utilizing high-throughput sequencing data.

Description

technical field [0001] The present application relates to the technical field of high-throughput sequencing data analysis, in particular to a method, device and application of CYP21A2 gene NGS data analysis. Background technique [0002] Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease with a global incidence of 1 / 15,000. Related pathogenic genes include CYP21A2 (21-hydroxylase), CYP11B1, HSD3B2, and CYP17A1, among which CYP21A2 gene causes Congenital adrenal hyperplasia accounts for 90%-95% of CAH patients, and the incidence rate is 1 / 10000-1 / 20000. The types of 21-hydroxylase deficiency include classic and non-classic, and the classic types include severe salt loss and simple The virilizing type, the former accounts for about 75% of the number of patients, and the latter accounts for 25%. In the carrier screening project, expanding the types of metabolic diseases for carrier screening, moving the prevention of metabolic diseases to pre-pregna...

Claims

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Application Information

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IPC IPC(8): G16B30/10G16B20/50G16B20/30G16B20/20
CPCG16B30/10G16B20/50G16B20/20G16B20/30
Inventor 刘风侠孙隽周梅珍许莹硕樊春娜王垚燊彭智宇
Owner TIANJIN MEDICAL LAB BGI
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