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Processing method and system for mitochondrial high-throughput sequencing data

A technology for sequencing data and processing methods, applied in the field of biological information, can solve the problem of inaccurate annotation of mitochondrial genomics, and achieve the effect of convenient clinical application and scientific research

Inactive Publication Date: 2017-05-10
神州医学数据科技(北京)有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0003] In order to solve the problem of inaccurate annotation of mitochondrial genomics at present, the present invention proposes a mitochondrial high-throughput sequencing data processing method and system

Method used

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  • Processing method and system for mitochondrial high-throughput sequencing data
  • Processing method and system for mitochondrial high-throughput sequencing data
  • Processing method and system for mitochondrial high-throughput sequencing data

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Embodiment 1

[0034] Such as figure 1 As shown, this embodiment proposes a method for processing mitochondrial high-throughput sequencing data, the method comprising:

[0035] S1. Sequence and identify the source of mitochondrial high-throughput sequencing data to obtain the data format and record it; if the sequencing data is in fastq format, it is Illnumina data; if it is in bam format, it is Ion Torrent data;

[0036] S2. Perform quality control analysis on the identified data to determine whether the quality of the sequencing data is up to standard. If the quality of the sequencing data is not up to standard, exit the processing flow and report that the quality control is not up to standard; if the quality of the sequencing data is up to standard, execute S3;

[0037] The quality control analysis of the data can be realized by using FastQC software. The input file required by this software is a question in the fastq format. Therefore, if the source of the data after sequencing is Illnum...

Embodiment 2

[0043] Such as Image 6 As shown, this embodiment proposes a mitochondrial high-throughput sequencing data processing system, the system comprising:

[0044] The data source judgment module is used to sequence and identify the source of mitochondrial high-throughput sequencing data to obtain and record the data format; if the sequencing data is in fastq format, it is Illnumina data; if it is in bam format, it is IonTorrent data;

[0045] The original data quality inspection module is used to perform quality control analysis on the identified data to determine whether the quality of the sequencing data is up to standard. If the quality of the sequencing data is not up to standard, it will exit the processing process and report that the quality control is not up to standard; if the quality of the sequencing data is up to standard, it will start Sequence comparison module;

[0046] The quality control analysis of the data can be realized by using FastQC software. The input file ...

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Abstract

The invention relates to the technical field of bioinformation, in particular to a processing method and system for mitochondrial high-throughput sequencing data. The method includes the steps that sequencing authentication is conducted on the source of the mitochondrial high-throughput sequencing data to acquire the data format, and then the data format is recorded; quality control analysis is conducted on the authenticated data to judge whether the quality of the sequencing data reaches the standard or not, and if the quality of the sequencing data does not reach the standard, the processing process is quitted and it is reported that quality control does not reach the standard; if the quality of the sequencing data reaches the standard, sequence alignment is conducted on the sequencing data with the quality reaching the standard according to the source of the sequencing data; if sequence alignment does not succeed, the processing process is quitted and it is reported that sequence alignment does not succeed, and if sequence alignment succeeds, genomic annotation is conducted on the sequencing data obtained after successful sequence alignment. By means of the processing method and system, high-automation batched analysis and processing can be conducted on the mitochondrial gene detection data without Internet connection, and gene variations can be displayed in a classified mode according to clinical detection and experimental and scientific research, so that convenience is brought to clinical application and scientific research.

Description

technical field [0001] The invention relates to the technical field of biological information. Background technique [0002] At present, the existing next-generation sequencing data analysis process for mitochondria is mainly composed of quality control of sequencing data, comparison of a large number of short sequence fragments obtained by sequencing to known human reference sequences, finding variations, genomic annotation of variations, and Disease association annotation consists of 5 steps. However, the format of the output file of the previous step and the input file required for the next step in the process are different, resulting in the impossibility of highly automated data analysis, and existing genomics annotation software such as ANNOVAR and SnpEff with high applicability and popularity for nuclear DNA The variation annotation in is relatively accurate, but the mutation on mitochondrial DNA cannot correctly annotate the gene, amino acid change, and location of t...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 任永永全雪萍郝占平
Owner 神州医学数据科技(北京)有限公司
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