![]() Comparing the diagnostic OR, PolyPhen2 and Mutpred have the highest detection 4.983 (95% CI: 1.24 - 20.02) in both, following by SIFT (diagnostic OR: 3.25, 95% CI: 1.07 - 9.83). Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. The pathogenicity prediction was done using SNP-based pathogenicity detection tools include SIFT, PHD- SNP, PolyPhen2, fathmm, Provean, and Mutpred. ![]() All the mutation related to CNS was extracted. Database searches included db SNP, SNPdbe, HGMD, Swissvar, ensemble, and OMIM. A comprehensive search was performed to find all mutations related to CNS. The main objective of the present review is to summarize results of all available evidence on the accuracy of SNP-based pathogenicity detection tools compared to published clinical result for the prediction of in nsSNPs that leads to disease using prediction performance method. Galehdari, Hamid Saki, Najmaldin Mohammadi-Asl, Javad Rahim, FakherĬrigler-Najjar syndrome (CNS) type I and type II are usually inherited as autosomal recessive conditions that result from mutations in the UGT1A1 gene. Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.
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