Page 35 - CIBERER-2015-eng

BIER
Last year 2015, 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 sequenc- ing projects.
BiER has provided a service for technological-bi- oinformatic advice and support in 22 projects from 15 CIBERER groups, in the programmes of
• The BiERapp (http://bierapp.babelomics.org) is a tool for analysing individual genome or exome sequences or from families or cases/ controls. BiERapp enables the interactive appli- cation of heuristic filtration to rule out variants incompatible with the disease.
• The CIBERER Spanish Variant Server tool. (CSVS) which is a database of frequencies of
Platforms
Genetic Medicine, Inherited Metabolic Medicine, Endocrine Medicine, Sensorineural pathology, Mitochondrial and Neuromuscular Medicine and Inherited Cancer, Haematological and Dermato- logical Diseases. The strategies developed were applied to data from high-performance technolo- gies, tackling transcriptomic and genomic studies (exomes and gene panels). It has worked on the development of new methods for transcriptomic analysis in the context of signalling routes and analyses of functional enrichment of microRNAs.
It has taken an active part in intra-group coopera- tion with the reception of 11 researchers and held the “NGS course: from reads to candidate genes” training activity which was attended by 25 partici- pants from different CIBERER groups.
The results of these bioinformatic analyses and developments have generated 25 cooperative sci- entific publications.
Apart from this, systems for assistance in discov- ering new disease variants have been developed by the BiER in support of the CIBERER’s sequenc- ing projects.
Spanish variants (http://csvs.babelomics. org). The CSVS currently has 578 individuals, including 267 healthy controls for the Medical Genome Project and a growing amount of data on the CIBERER sequencing projects, as well as data on individuals from Spain in the 1000G project.
• Lastly, TEAM is described (http://team. babelomics.org). This is a specific software for designing panels of genes for NGS diagnosis reporting the diagnostic findings and optionally also unexpected findings and variants of uncertain significance.
• Other tools developed in the group are: Cell- Maps (http://cellmaps.babelomics.org), Babe- lomics (http://babelomics.org) and Genome Maps (http://genomemaps.org).
CIBERER I Annual report 2015 I 35