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Updated: May 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses
Miriam Rubio-Camarillo1, Gonzalo Gómez-López, José M Fernández
1Structural Computational Biology Group, Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre, 28029 Madrid, Spain. mrubioc@cnio.es
Motivation:
RUbioSeq has been developed to facilitate the primary and secondary analysis of re-sequencing projects by providing an integrated software suite of parallelized pipelines to detect exome variants (single-nucleotide variants and copy number variations) and to perform bisulfite-seq analyses automatically. RUbioSeq's variant analysis results have been already validated and published.
Availability:
http://rubioseq.sourceforge.net/.
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