Consistency of tools that predict the impact of SNPs on gene functionality. Application to BRCA1 gene

J. MURILLO; F. SPETALE; I. GARCIA LABARI; P. BULACIO

Montevideo

Conferencia; X International Conference on Bioinformatics; 2019

Sociedad Iberoamericana de Bioinformática (SoIBio)

A single-nucleotide polymorphism (SNP) is a substitution of a single nucleotide that occurs at a specific position in the genome. The degree to which a SNP affects protein function is a key point, but its prediction remains an open problem. Many Bioinformatics tools, known as p-tools, have been developed to predict the effect of single nucleotide polymorphisms on gene functionality in an effort to reduce the need for in vitro assays. The use of these tools in scientific research and even in precision medicine for disease treatment and prevention is very frequent. This situation points out the importance of understanding thesemantics of their outputs and the quantification of their possible limitations. However, the large number of p-tools available and the heterogeneity of their outputs make their selection, comparison and understanding a non trivial task. To support the study of these problems two questions were formulated:1) Do the p-tools provide similar predictions for the effect of mutations in a given gene? (inner consistency)2) Are the predictions consistent with those reported in the literature? (outer consistency).