On the consistency of tools that predict the impact of SNPs in the BRCA1 gene

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

Mendoza

Congreso; 10th Argentinian Congress of Bioinformatics and Computational Biology (A2B2C); 2019

Asociación Argentina de Bioinformática y Biología Computacional (A2B2C)

Many Bioinformatics tools have been developed to predict the effect of single nucleotide polymorphisms (SNPs) on gene functionality in an effort to reduce the need for in-vivo assays. Their use in scientific research and even in personalized medicine is frequent and the need for understanding their output, essential. Many tools with heterogeneous outputs are available. This makes their selection, understanding, and comparison a non-trivial task. Current methods comparing these tools overcome the heterogeneity of outputs problem by binarizing them at the expense of information loose. We are concerned about the consequences of these practices. In this work, we pose two closely related questions as a starting point: i) Do these prediction tools provide similar results -inner consistency?, and ii) Are their predictions consistent with the literature results -outer consistency