System and Method for detecting disease markers by reverse classification using allelic depth, sign

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The present invention is characterized by selecting disease mutation markers based on a comparison and analysis method (allelic power difference, allelic depth tangent difference, allelic depth difference, geometric allelic difference, statistical allelic difference, and allelic imbalance ratio) and a weighted score for a locus function and creating a disease mutation marker rank by using a continuous variable itself used for a single nucleotide variant (SNV) calling in order to improve a biomarker search and excavation power, thereby improving compared to a conventional method the sensitivity of excavation of genome biomarkers corresponding to various cancers, drug-resistant cancers, rare diseases, chronic diseases, a risk of disease to a normal person, a phenotype, etc. by reverse classification.(AA) Normal/disease genome comparison & rank(BB) Raw information : Allelic depth, allelic imbalance, signal intensity and quality score(CC) Conventional method (normal/disease genome comparison)(DD) Mutation definition(EE, PP) SNP, SNA, INDEL and CNV(FF) Mutation information-based genome comparison(G1) SNP mutation comparison(G2, H2) Normal(G3, H3) Patient(G4, H4) Candidate marker(H1) CNV mutation comparison(II, NN) Disease mutation marker candidate list(JJ) Novel method (normal/disease genome comparison)(KK) Raw information-based genome comparison(LL) Method difference(M1) Allelic depth difference(M2) Geometric allelic difference(M3) Statistical allelic difference(M4) Allelic imbalance ratio(M5) Allelic quality score(M6) Entire(OO) Mutation definition(QQ) Sensitivity(RR) Conventional(SS) Novel(T1) Pair genome(T2) Pair 1 (normal/disease)(T3) Pair 2 (normal/disease)(T4) Pair 3 (normal/disease)(T5) Pair 4 (normal/disease)(T6) Pair 5 (normal/disease)(T7) Pair 6 (normal/disease)(T8) 6 Pair intersection(T9) GATK and ADISCAN common(UU) Whole is the answerCOPYRIGHT KIPO 2014