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• 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 COLLABORATIONS BETWEEN CIBERER GROUPS.
This objective contemplates collaboration with CIBERER research groups for the joint development of intramural research projects and other types of research projects .
Several levels of aid offered throughout 2014 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 genomic data of one or several groups .
• Development projects: CIBERER groups suggested a development that BIER carried 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 RDs and their possible aetiologies, genetic origin, symptomatology 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 .
Publications as a direct result of BIER activity, beyond those led by the groups with support of the filtering and interpretation of data done by BIER, are:
The role of the interactome in the maintenance of deleterious variability in human populations .
Garcia-alonso l, Jiménez-almazán J, carbonell-caballero J, Vela-boza a, santoyo-lópez J, antiñolo G, Dopazo J. Mol Syst Biol . 2014 Sep 26;10:752 . doi: 10 .15252/msb .20145222 .
Acceleration of short and long DNA read mapping without loss of accuracy using suffix array .
tárraGa J, arnau V, martínez H, moreno r, cazorla D, salaVert-torres J, blanquer-espert i, Dopazo J, meDina i . Bioinformatics . 2014 Dec 1;30(23):3396-8 . doi: 10 .1093/bioinformatics/btu553 . Epub 2014 Aug 20 .
A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications . alemán a, Garcia-Garcia F, meDina i, Dopazo J. Nucleic Acids Res . 2014 Jul;42(Web Server issue):W83-7 . doi: 10 .1093/nar/gku472 . Epub 2014 May 26 .
A web-based interactive framework to assist in the prioritization of disease candidate genes in whole- exome sequencing studies . alemán a, Garcia-Garcia F, salaVert F, meDina i, Dopazo J. Nucleic Acids Res . 2014 Jul;42(Web Server issue):W88-93 . doi: 10 .1093/nar/gku407 . Epub 2014 May 6 .
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies . De castro-miró m, pomares e, lorés-motta l, tonDa r, Dopazo J, marFany G, Gonzàlez- Duarte r . PLoS One . 2014 Feb 7;9(2):e88410 . doi: 10 .1371/journal .pone .0088410 . eCollection 2014 . Erratum in: PLoS One . 2014;9(6):e101641 .
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