Bioinformatic analysis

Thanks to our experience in the past 5 years with NGS we are now able to offer you a complete bioinformatics analysis using both available web tools and in-house developed bioinformatics tools, such as FusionAnalyzer, for fusion detection in RNA-Seq experiments, and CEQer, to study copy number and allelic imbalance abnormalities in matched exome sequencing.

FusionAnalyser software:
is an efficient and robust graphical tool developed by our team for the identification of functional rearrangements through the analysis of paired-end transcriptome sequencing data.

CEQer software:
CEQer (Comparative Exome Quantification analyzer) is a graphical, event-driven tool developed by our team for CNA/allelic-imbalance (AI) coupled analysis of exome sequencing data.
By using case-control matched exome data, CEQer performs a comparative digital exonic quantification to generate CNA data and couples this information with exome-wide LOH and allelic imbalance detection.
This data is used to build mixed statistical/heuristic models allowing the identification of CNA/AI events.

SpliceFinder software:
SpliceFinder is a bioinformatic tool developed by our team for detection, from case-control matched exome data, of somatic variants occurring at the exon-intron boundary potentially causing splicing abnormalities.