Page 58 - MemoriaER-Eng

TRANSVERSAL PLATFORMS

Objective 2: To support CIBERER’s work in top-level competitive

strategic fields:

• Support was offered to analyze ultrasequencing data of the CNAG (National Ge-
nomic Analysis Centre) and MGP (Medical Genome Product) from the familial

genomic analysis project initiative promoted by CIBERER.

• More specific support was offered in the required cases: support at different le-

vels, starting with primary data processing up until applying more sophisticated
techniques with predictive target function and locating potential, such as applying

different functional prediction methods and other methods based on interaction

network mining, for example.

• Large-scale genotyping, transcriptomics with microarrays or RNA-seq, proteome
analysis and their projection on interactomes, etc., were performed for some

projects.

Objective 3: To generate added value by encouraging collabora-

tions between CIBERER groups.

This objective contemplates collaboration with CIBERER research groups for the joint de-

velopment of intramural research projects and other types of research projects.

Several levels of aid offered throughout 2013 stand out among the collaborations with

CIBERER groups:

• Advisory projects: BIER offered advisory services about analysis tools to be used
to groups of expertise.

• Support projects: BIER has provided support and been involved in analyzing ge-

nomic data of one or several groups.

• Development projects: CIBERER groups suggested a development that BIER ca-

rried out.

The BIER platform aspires to have a high degree of interaction with Orphanet because

a great deal of the information contained in this international database can be used for
completing information about RD and their possible etiologies, genetic origin, symp-

tomatology interrelation, etc., enabling an integrative study of diseases. In addition,

many of the analysis tools could in turn be implemented in Orphanet. For now, this
interrelation is still incipient.

Finally, the BIER platform sought to train CIBERER investigators in bioinformatic appli-
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cations relating to the analysis of genomic data. In this regard in 2013:
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T
R
PO
Objective 4: Training through courses or internships.
E
L R
A
NU
• The PhenUMA course “Introduction to the analysis of phenotypic and functional N
A
networks in rare diseases” coordinated by U741 investigators was organized at /
ER
the University of Malaga.
ER
B
• Through the CIBERER mobility programme, BIER received 12 CIBERER investi- CI
gators in its work centre, 8 of them group leaders and four others who benefited

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from CIBERER training aids for intramural mobility. With these short internships