Whole genome re-sequencing analysis and method for whole genome re-sequencing analysis

A whole-genome, re-sequencing technology, applied in the fields of genomics, proteomics, instruments, etc., can solve the problems of reducing the speed and efficiency of preparing sequencing sequence libraries and data analysis, achieving the effect of reducing cost consumption and shortening time

Active Publication Date: 2020-02-14
南京医基云医疗数据研究院有限公司
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

Frequent reading and writing of such a large number of intermediate files will also seriously reduce the speed and efficiency of preparing sequencing sequence libraries and data analysis

Method used

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  • Whole genome re-sequencing analysis and method for whole genome re-sequencing analysis
  • Whole genome re-sequencing analysis and method for whole genome re-sequencing analysis
  • Whole genome re-sequencing analysis and method for whole genome re-sequencing analysis

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Embodiment Construction

[0046] Example embodiments will now be described more fully with reference to the accompanying drawings. Example embodiments may, however, be embodied in many forms and should not be construed as limited to the examples set forth herein; rather, these embodiments are provided so that this disclosure will be thorough and complete and fully convey the concept of example embodiments to those skilled in the art. The drawings are merely schematic illustrations of the invention and are not necessarily drawn to scale. The same reference numerals in the drawings denote the same or similar parts, and thus repeated descriptions thereof will be omitted.

[0047] Furthermore, the described features, structures, or characteristics may be combined in any suitable manner in one or more embodiments. In the following description, numerous specific details are provided in order to give a thorough understanding of embodiments of the invention. However, those skilled in the art will appreciate...

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Abstract

The invention discloses whole genome re-sequencing analysis and a method for the whole genome re-sequencing analysis. The method for whole genome re-sequencing analysis comprises the following steps of: acquiring a plurality of sequencing sequences obtained by identifying a DNA sequence of a sample to be detected, dividing the plurality of sequencing sequences into a plurality of sequencing sequence groups, based on each sequencing sequence group, executing the following operations in parallel: sequentially or parallelly comparing each sequencing sequence in the sequencing sequence group witha reference genome, and determining a corresponding position of each sequencing sequence on the reference genome and a corresponding chromosome number, and according to the corresponding position of each sequencing sequence on the reference genome and the corresponding chromosome number, conducting sequencing and duplicate removal on each sequencing sequence, and generating a sequencing sequence library corresponding to each chromosome.

Description

technical field [0001] The present invention relates to the field of gene sequencing, in particular to a whole genome resequencing analysis and a method for whole genome resequencing analysis. Background technique [0002] Whole genome resequencing refers to the genome sequencing of different individuals in a species with a reference genome, and the identification of the differences between the individual genes of the sample and the reference genome. With the improvement of the public's understanding of the human genome, whole genome resequencing is playing an increasingly important role in the fields of medicine and identification. [0003] At this stage, whole-genome resequencing includes two steps: experiment and data analysis: 1) Using a next-generation sequencer to identify the DNA sequence of the input sample as a sequencing sequence; 2) Using mathematical statistical methods to determine the sequencing sequence output by the next-generation sequencer The difference b...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B40/00G16B20/00G16B50/30
CPCG16B20/00G16B40/00G16B50/30
Inventor 张凯沈一鸣
Owner 南京医基云医疗数据研究院有限公司
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