System and method to identify disease associated genetic variants by using symptom associated genetic variants relationship

The present invention provides a system for discovering disease-causing genetic mutations, which includes: a symptom-genetic variation correlation analysis unit for calculating the symptom-related genetic variation correlation indicating the degree of influence of the genetic variation on the sympto...

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Bibliographische Detailangaben
Hauptverfasser: BYUNG CHUL LEE, YOU KYUNG CHO, DHONG GUN WON, CHANGWON KEUM
Format: Patent
Sprache:eng ; kor
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Zusammenfassung:The present invention provides a system for discovering disease-causing genetic mutations, which includes: a symptom-genetic variation correlation analysis unit for calculating the symptom-related genetic variation correlation indicating the degree of influence of the genetic variation on the symptoms; and a genetic variation-associated disease correlation analysis unit in which the disease is defined as a combination of symptoms, and which calculates the genetic variation-associated disease correlation indicating the degree to which the genetic variation causes the disease by using the symptom-associated genetic variation correlation for each symptom defining the disease. 본 발명은 증상에 대해서 유전변이가 영향을 미치는 정도를 나타내는 증상 연관 유전변이 상관도를 계산하는 증상-유전변이 상관도 분석부; 및 질병은 증상들의 조합으로 정의되며, 질병을 정의하는 각 증상에 대한 상기 증상 연관 유전변이 상관도를 이용하여 상기 유전변이가 상기 질병을 유발하는 정도를 나타내는 유전변이 연관 질병 상관도를 계산하는 유전변이-질병 상관도 분석부를 포함하는 질병 유발 유전변이 발굴 시스템을 제공한다.