Page 36 - CIBERER2016-ENG

• Informative tools on RD (Orphanet, Eurodis....), in the course on “Introduction to rare diseases: research and clinical care” organised by the Escuela Valenciana de Estudios de la Salud, Valencia.
• Presentation of the Orphanet portal at the Hospital Sant Joan de Déu, Barcelona.
Furthering the resources shared by CIBERER-ORPHANET, working to ensure that the relationship between these two institutions represents added value for their respective projects
• Cooperation with the Service for Patient Care.
• Reviewing the list of diseases assigned to the projects included in the MAPER.
• Cooperation with the different PdI of the CIBERER in updating the CIBERER activities which have been included in the Orphanet.
BIER
Last year 2016, the BiER platform kept up its hard work in cooperation with CIBERER groups, at first in the framework of the intramural sequencing projects and later on in its groups’ own sequencing projects.
The platform led the intramural project entitled: “Development of a platform for new generation sequencing diagnosis” which will be continued in the new project to be started in 2017: “Development of a platform for prioritising the variants of disease using data”. Both are linked developments which will generate useful applications for filtering and construing results of massive sequencing.
BiER took in mobility visits from 3 researchers from other groups in the network, with the training and cooperation implications meant by these.
It gave technological-bioinformatic advice and support services in 26 projects from 16 CIBERER
groups. The analysis strategies developed were applied to data from high-performance technologies, tackling transcriptomic and genomic studies (exomes and gene panels). We worked on developing new transcriptomic analysis methods in the setting of signalling pathways and analysis of functional enrichment of microRNAs.
We took an active part in inter-group cooperation, with the reception of 11 researchers and performed the training activity “CIBERER Course on Genomic Data Analysis” organised from 28 to 30 September 2016 at the Centro de Investigación Príncipe Felipe, Valencia, which was attended by 28 pupils, 17 from CIBERER groups and 11 external.
The results of these bioinformatic developments and analyses generated 11 collaborative scientific publications.
The impact of the different online applications of the BIER web site was monitored:
The BiERapp (http://bierapp.babelomics.org) is a tool for analysing genomic or exomic sequences, either individual or of families or cases/controls. It had 5967 usage sessions (over double the number in 2015).
The TEAM (http://team.babelomics.org), a specific software for designing gene panels for NGS diagnosis which reports on diagnostic findings and optionally also unexpected findings and variants of uncertain effect. 980 usage sessions.
In 2016 two new hiPathia applications were got under way (March 2016, with 1969 usage sessions that year) and PathAct (March 2016, with 1321 usage sessions).
13263