Non Syndromic Hereditary Hearing Loss: Gene Prioritization Based on Textual Approach

Non Syndromic Hereditary Hearing Loss (NSHL) is an extremely complex disease from a genetic point of view. Fortyeight genes have already been discovered to be responsible of this phenotype, however for many chromosomal regions (susceptibility loci) linkage studies have suggested a role in the manifestation of NSHL without exactly identifying the genes. This implies the presence of an extremely large number of candidate genes for NSHL to be still explored. Due to this large amount of data, a bioinformatic approach is an essential requirement to narrow down the list of candidate genes to a manageable number for experimental validation. To address this issue, in this paper a prioritization tool based on text mining is presented. The innovation of the approach consists of the introduction of a weighting scheme to select the relevant keywords to be associated to a gene. Some preliminary, nevertheless encouraging results highlight the validity of the approach.