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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 interpretation 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, transcriptomic 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 Sánchez .
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 incorporating 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 laboratories 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 samples from patients that still had no identified genetic diagnosis .
Finally, the peculiarity of RDs is that the availability of few samples in a genomic scenario 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 2014 include:
OBJECTIVE 1: TO GIVE EXPOSURE TO BIER, BOTH WITHIN CIBERER AND OUTSIDE IT:
• Maintain the specific informative web page with available analysis tools • Launch of a tool for filtering genomic variants, BIERapp:
http://bierapp.babelomics.org/ An interactive application for giving priority to candidate genes in whole exome sequencing studies .
• The system facilitating and enabling support for groups was maintained, primarily based on a collaborative plan, within the possibilities of the BIER .
OBJECTIVE 2: TO SUPPORT CIBERER’S WORK IN TOP-LEVEL COMPETITIVE STRATEGIC FIELDS:
• Support was offered to analyze ultrasequencing data of the CNAG (National Genomic 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 levels, 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 .
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CIBERER » Annual report 2014