Apparatus and method for extracting biomarkers

A technology of biomarkers and extraction devices, applied in the field of bioinformatics, can solve problems such as misjudgment and low single nucleotide polymorphism ratio

Inactive Publication Date: 2012-07-04
SAMSUNG SDS CO LTD
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Problems solved by technology

SIFT (Sorting Tolerant From Intolerant) is a series of methods for predicting the harmfulness of protein function due to individual non-synonymous single nucleotide polymorphism (non-synonymous Single Nucleotide Polymorphism) in individual genes. , PolyPhen, MAPP (Map Annotator and Pathway Profiler), etc. However, only using these methods to find out the etiology or disease markers for more complex diseases has certain limitations
[0008] And in general single nucleotide polymorphisms (SNPs), the ratio of single nucleotide polymorphisms (SNPs) that are harmful to protein function is very low
Therefore, if the gene set enrichment analysis (Gene set enrichment analysis) and the single nucleotide polymorphism (SNP) analysis method are used, the single nucleotide polymorphism (SNP) that may cause damage to the protein function will not be distinguished. ), while using all data predicted as single nucleotide polymorphisms (SNPs), it is therefore possible to misjudge biological pathways or gene sets that do not actually have much to do with a particular disease as statistically significant

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  • Apparatus and method for extracting biomarkers
  • Apparatus and method for extracting biomarkers
  • Apparatus and method for extracting biomarkers

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[0027] Hereinafter, preferred embodiments of the present invention will be described in detail with reference to the accompanying drawings. The advantages, features, and implementation methods of the present invention will be more clearly described in the following detailed description with reference to the accompanying drawings. However, the present invention is not limited to the embodiments disclosed below, but can be implemented in various forms different from each other. This embodiment is only to make the disclosure of the present invention more complete, and to those who have common knowledge in the technical field to which the present invention belongs Since the scope of the invention has been fully disclosed, the invention is therefore defined only within the scope of the claims. The same reference numerals denote the same structural elements throughout the specification.

[0028] figure 1 is a block diagram showing a biomarker extraction device 100 according to an ...

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Abstract

An apparatus and method for extracting biomarkers with higher reliability by analyzing toxicity indicating how genetic variants appearing in sequences affect gene functions are provided. The apparatus includes a pre-processor that analyzes sequences of samples of genes and extracts data of genetic variants mapped to the genes, a toxicity prediction unit that obtains toxicity scores obtained by quantifying genetic dysfunctions affected by the data of genetic variants, and a modularization unit that searches for a least one sub-module including a set of genes whose toxicity scores exceed a predetermined critical value from a genetic network.

Description

technical field [0001] The present invention relates to a bioinformatics technology, in particular to a device and method for extracting biomarkers with higher reliability based on the analysis of the harm caused by the variation in the sequence to gene function. Background technique [0002] After the completion of the Human Genome Project, it began to decipher the base sequence of human DNA, and began to reveal the diverse functions of human genes. In particular, various gene variations have been discovered, and it has been revealed that not only differences in human traits, but also possible causes of specific diseases, have accelerated the analysis and research of human genes. However, it has been difficult to unravel which of the potentially large hereditary variations in human genes are actually causative. [0003] Recently, as a measure to solve such a problem, a next generation gene sequencing technology (Next Generation Sequencing) is being studied. Through this t...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18G16B20/20G16B20/40G16B30/00G16B40/20
CPCG06F19/22G06F19/24G06F19/18G16B20/00G16B30/00G16B40/00G16B20/40G16B40/20G16B20/20C12Q1/6827
Inventor 尹泓皙宣忠贤朴仁镐
Owner SAMSUNG SDS CO LTD
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