Optimising genomic data Correct interpretation, storage and dissemination of the massive amount of genomics data currently available present many challenges. Seventeen partners from seven European countries have put the human genome into the context of human health and future personalised medicine. Health © Thinkstock The EU-funded GEUVADIS project consortium has applied its extensive experience in sequencing, biobanking and data sharing to cardiovascular, neurological and metabolic areas of medicine. The researchers focused on the exome and the transcriptome. Composed of all DNA that is transcribed into mature RNA in cells of any type, the exome stands apart from the transcriptome, which refers to RNA transcribed from a specific cell population. Standardisation of operating procedures and analysis is vital for meaningful data on clinical phenotypes and disease. Detailed assessment of RNA sequencing procedures on the exome revealed standardisation in sample quantification, target enrichment and sequencing library preparation across participating labs. However, filtering procedures in subsequent analysis pipelines, alignment of sequencing readouts and variant naming were subject to substantial differences. Using the highly standardised procedures, 500 RNA samples were distributed and analysed. Exome sequencing focused on Parkinson's disease, chronic inflammatory disorders, fibromyalgia and intellectual disability. The team also set up a GEUVADIS European Exome Variant Server available to the public. Data storage and access for the RNA and next-generation sequencing was developed complete with an exchange strategy and recommendations. The European Bioinformatics Institute now houses a GEUVADIS FTP site for scientific data exchange as well as five publicly available data sets. Analysis of results visualisation is handled by the GEUVADIS data browser. Genome analysis on this scale is set to have a profound impact on individuals, families and society. GEUVADIS analysed the ethical, legal and social implications of phenotype prediction from sequence variation and direct-to-consumer genome sequencing. An examination was also performed of professional attitudes to large-scale dissemination of genetic information. Project results were disseminated to the scientific community through 176 oral and 22 poster presentations, and 43 scientific articles. GEUVADIS also produced a podcast explaining project aims and activities. The EU-funded project XPLOREHEALTH has produced a video about GEUVADIS titled 'Do we speak the same genome?', with target audience the general public. Keywords Genomic data, human health, personalised medicine, sequencing, data storage
