【摘要】：通過比較不同位點致病性預(yù)測軟件的預(yù)測效果和預(yù)測特點,從而根據(jù)錯義突變所在疾病的類型和使用目的選擇預(yù)測效果最佳的軟件,為位點致病性預(yù)測軟件的合理有效使用提供依據(jù)。將孟德爾疾病和復(fù)雜疾病作為數(shù)據(jù)集分類標(biāo)準(zhǔn),使用經(jīng)實驗驗證的致病錯義突變數(shù)據(jù)集對7種位點致病性預(yù)測軟件(Mutation Taster-2,Mutation Assessor,Poly Phen2,SIFT,LRT,Condel和Logit)的實際預(yù)測效果和特點進(jìn)行比較分析。結(jié)果顯示被測位點致病性預(yù)測軟件的預(yù)測效用和特點各不相同,同時軟件對于孟德爾疾病數(shù)據(jù)集的預(yù)測效果優(yōu)于復(fù)雜疾病數(shù)據(jù)集;此外Condel和Logit軟件作為組合型位點致病性預(yù)測軟件,在孟德爾疾病和復(fù)雜疾病錯義突變數(shù)據(jù)集中的預(yù)測效果均優(yōu)于單一型位點致病性預(yù)測軟件,但二者的敏感度和特異性差異也較大。在位點致病性預(yù)測軟件的實際使用過程中,應(yīng)根據(jù)錯義突變所屬疾病的類型和軟件的特點選擇最適軟件,或同時使用多個預(yù)測特點互補(bǔ)的軟件對位點的致病性進(jìn)行綜合預(yù)測。
[Abstract]:By comparing the prediction effect and characteristics of the pathogenicity prediction software at different loci, the best software was selected according to the type and use of the disease in which the missense mutation occurred. To provide the basis for the rational and effective use of locus pathogenicity prediction software. Using Mendelian disease and complex disease as data set classification criteria, the actual prediction results and characteristics of seven locus pathogenicity prediction software (Mutation Taster-2,Mutation Assessor,Poly Phen2,SIFT,LRT,Condel and Logit) were compared and analyzed by using the pathogenicity mutation data set verified by experiments. The results showed that the predictive utility and characteristics of the pathogenicity prediction software were different, and the prediction effect of the software for Mendelian disease data set was better than that of the complex disease data set. In addition, Condel and Logit, as combined locus pathogenicity prediction software, are superior to single type locus in predicting pathogenicity of Mendelian disease and complex disease. But the sensitivity and specificity of the two are also different. In the practical use of locus pathogenicity prediction software, the optimal software should be selected according to the type of disease and the characteristics of the software, or multiple complementary software should be used to comprehensively predict the pathogenicity of locus.
【作者單位】： 復(fù)旦大學(xué)生命科學(xué)學(xué)院;
【基金】：國家自然科學(xué)基金面上項目(No.31272299)資助
【分類號】：R440
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本文編號：2202351