System and method for aligning genome sequence in consideration of accuracy

A technology of base sequence and alignment device, which is applied in sequence analysis, biochemical equipment and methods, and determination/inspection of microorganisms, etc., to achieve the effects of improving accuracy, improving accuracy, and improving accuracy

Inactive Publication Date: 2015-05-06
SAMSUNG SDS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, due to errors in the sequencing process and polymorphism in the genetic information of living organisms, it is necessary to allow a certain degree of error (mismatch) in the base sequence alignment algorithm

Method used

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  • System and method for aligning genome sequence in consideration of accuracy
  • System and method for aligning genome sequence in consideration of accuracy
  • System and method for aligning genome sequence in consideration of accuracy

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Embodiment Construction

[0034] Hereinafter, specific embodiments of the present invention will be described with reference to the drawings. The following detailed description is provided to facilitate a comprehensive understanding of the methods, devices and / or systems described in this specification. However, this is just an example, and the present invention is not limited thereto.

[0035] When describing the present invention, if it is considered that the specific description of the known technology related to the present invention may cause unnecessary confusion to the gist of the present invention, the detailed description will be omitted. In addition, terms described later are terms defined in consideration of functions in the present invention, and may vary depending on users, operator's intentions, practices, and the like. Therefore, it should be defined based on the contents of the entire specification. The terms used in the detailed description are for describing the embodiments of the p...

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Abstract

There are provided a sequence aligning device in consideration of accuracy, and a method thereof. The sequence aligning apparatus of an embodiment of the present disclosure includes a seed extracting unit configured to extract at least one seed that is exactly matched to a reference sequence from a read; a mapping score calculating unit configured to, with respect to each of the at least one extracted seed, map a left area and a right area of the read to the reference sequence based on the seed at each mapping position of the reference sequence of each seed, and calculate a left mapping score and a right mapping score of each mapping position from the mapping result; and a read aligning unit configured to determine a mapping position in each reference sequence of the at least one seed using the calculated left mapping score and right mapping score.

Description

technical field [0001] An embodiment of the present invention relates to a technique for analyzing the base sequence of a genome. Background technique [0002] Base sequence alignment between a reference sequence and short fragments basically utilizes exact matching based on base sequence homology (homology). However, it is necessary to allow a certain degree of error (mismatch) in the base sequence alignment algorithm due to errors in the sequencing process and polymorphism in the genetic information of living organisms. [0003] In particular, a base sequence alignment algorithm that allows a certain degree of error as described above is effective in research on the entire genome of a specific living body and the like. However, in the medical market where only a specific disease (for example, cancer) is diagnosed, only a part of the region associated with a specific disease is analyzed rather than the entire genome, which is more common in this case than The starting spe...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18G16B30/10
CPCG16B30/00G16B30/10G16B99/00C12Q1/6869
Inventor 朴旻壻
Owner SAMSUNG SDS CO LTD
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