Page 97 - MemoriaCIBER-2017ENG

The software developed is being used for the analysis of the 1000 genomes of the NaGen project (http://www navarrabiomed es/es/nagen-proyecto-genoma-navarra), around 100 of which have been analysed, and for the analysis of the exomes of the EnoD project, 130 of which have been completed at the present time
The BIER has been working on the Spanish population genetic variant server (CSVS: http://www ciberer es/bier/csvs) which contains data on allele frequencies of variants currently obtained from 1600 exomes The CSVS is one of the most complete databases of genetic variation of local population currently existing The CSVS is on the Beacons list (https://beacon-network org/) of the GA4GH
MAPER Interactive map with Information on Rare Disease Projects
Coordinator: Pablo Lapunzina Badía
In 2017 information continued to be compiled for the MAPER database, which is the interactive map developed by the CIBERER with information on the biomedical research resources under way in Spain on rare diseases This year progress has been made and new resources have been added The data on the validated research projects accessible through the MAPER web in 2017 is as follows:
• 658 biomedical research projects and 539 clinical trials included
• 81 nancing agencies take part in the nancing of research into RD
• 515 principal researchers are included in the database
• 190 research centres included
• Presentation of results at the annual meeting of CIBERER in 2017 and at the Agencia Españo- la del Medicamento (AEMPS) and FEDER cooperation symposium on 14 December 2017