The programme’s scientific highlights in 2018 included the development of Pergola, a tool to visualise and analyse longitudinal data that uses the logical infrastructure built to display annotations along genome sequences; the investigation of the impact of the death of the organism in the transcriptional patterns in tissues and the corresponding development of a forensic tool to predict the time since death based on the gene expression values in a few selected tissues; the uncovering of evidence for the existence of an active sexual cycle in Candida glabrata, an opportunistic fungal pathogen, and the discovery of a number of proteins that regulate the expression of alpha-synuclein, which is linked to Parkinson’s disease, through interactions with its 3’ UTR.
Our programme also led the “Saca La Lengua” (“Stick Out your Tongue”) citizen’s science project (https://www.sacalalengua.org/stick-out-your-tongue/). The project aims to study the mouth’s microbiome and its possible relationship with our environmental characteristics and lifestyle.
Several groups in the programme are participating in a number of large-scale genomic projects, such as ENCODE, GTEx, PanCancer, I5K, F1K, WebOfLife, IASIS, the Human Cell Atlas and others.
The programme has continued to deploy and support the European Genome-phenome Archive (EGA) in collaboration with the European Bioinformatics Institute (EBI). EGA is an ELIXIR Core Data Resource and an ELIXIR Recommended Deposition Database. It is one of the Global Alliance for Genomics and Health (GA4GH) Driver Projects. EGA is also one of the European Open Science Cloud (EOSC) Science pilot demonstrators.