An open-source tool for managing time-evolving variant annotation

Authors: 
Ilio Catallo, Eleonora Ciceri, Stefania Stenirri, Stefania Merella, Alberto Sanna, Maurizio Ferrari, Paola Carrera, Sauro Vicini.

Part of the proceedings of CIBB 2017.

Genomics is drawing more and more attention in these last years, thanks to the introduction of fast and accurate sequencing strategies. Accumulation of data is fast and the amount of information to be managed and integrated is snowballing. While new variants (i.e., variation in an organism’s genome sequence) are discovered every day, we still do not know enough about the human genome to have a final understanding of all the implications that they could have from a clinical point of view. When inherited diseases are considered, variants clinical classification may change over time, in relation to new discoveries. In this scenario, software solutions that help operators in the analysis and maintenance of constantly changing genomic data are relevant in the field of modern molecular medicine. In this paper we present GLIMS, an open-source laboratory information management system for genomic data that allows to deal with time-evolving variant annotations. This solution answers to the need of genomic laboratories to keep up with their knowledge about variants and annotations, so as to provide patients with up-to-date reports. We illustrate the architecture of GLIMS modules that are in charge of keeping the database of variants updated and reclassifying patients variants. Then, we demonstrate (via the use of GLIMS)