Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencingapproach on panels of targeted genes has turned out to be particularly useful in analyzing diseasescharacterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relatingto ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion TorrentPGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVERtools. No causative mutations were found using Variant Caller and wANNOVER softwares,whereas the “Coverage Analysis” tool revealed a common large deletion in STS gene in a patientwith X-linked ichthyosis. Identification of indels in Next Generation Sequencing (NGS) data is a veritablechallenge. This study demonstrates the efficacy and effectiveness of using NGS approach todetect large deletions without resorting to specific algorithms for “indel” detection. Our resultsindicate that the NGS panel is a useful, rapid and cost-effective screening test for patients whosefeatures are suggestive of a genetic etiology involving one of the genes embedded in the panel. It isan excellent alternative to Sanger sequencing as for costs, ease of analysis, and turnaround time.
|Numero di pagine||5|
|Rivista||JOURNAL OF BIOMEDICAL SCIENCE AND ENGINEERING|
|Stato di pubblicazione||Published - 2016|