Page 57 - MemoriaER-Eng

www.ciberer.es

Bioinformatics Platform

for Rare Diseases (BIER)

The Bioinformatics Platform for Rare Diseases (BIER) is a transverse Work Group

whose primary mission is to collaborate with the experimental groups working with

genomic data, offering them both IT and scientific support for the analysis and inter-
pretation of said data.

The basis for this platform is the technical knowledge and strong lines of research

of the CIBERER bioinformatics groups: functional genomics and genomic, transcrip- á

tomic and massive sequencing data analysis conducted by U715, led by Dr. Joaquín
Dopazo, and the experience in proteomics and systems biology conducted by U741,

led by Dr. Francisca Snchez.

BIER began operating in 2012 and has become a binding and synergistic element
within CIBERER. This involves promoting the formation of small temporary groups to

work on common collaborative projects and incorporate groups with bioinformatic-

related interests into the collaboration structure of the BIER.

Massive sequencing has led to a new generation of data in many CIBERER group la-
boratories that is hard to handle, hard to interpret, and requires bioinformatics. This

trend is also a clearly growing trend. In 2011 CIBERER started up a Programme on

“Genes in Undiagnosed Rare Diseases” that has led to a series of projects to reinforce
the lines of work of the research groups in this regard to respond to a cases of sam-

ples from patients that still had no identified genetic diagnosis.

Finally, the peculiarity of RD is that the availability of few samples in a genomic sce-
nario requires developing methodologies of analysis and specific bioinformatic tools

that are not available in conventional bioinformatics.

In this regard, the actions performed by the platform in 2013 include:

13
20
T
Objective 1: To give exposure to BIER, both within CIBERER OR
P
and outside it
RE
L
A
• NU
Maintain the specific informative web page with available analysis tools. N
A
• Create a beta version of an online tool for filtering genomic variants, public
R /
launch being slated for 2014.
E
ER
• The system facilitating and enabling support for groups was maintained, pri- B
CI
marily based on a collaborative plan, within the possibilities of the BIER.

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