Bioinformatic Service for NGS

With sequencing technologies now producing millions of high-quality reads per run, working with sequence data has become a significant hurdle for many researchers.

The CEINGE Bioinformatics Service has solid expertise in the analysis of data resulting from next generation sequencing (NGS). The general objective of the service is to help research groups to get the most out of sequencing experiments by also developing data analysis strategies and specialist advice.


Services we can offer:

  1. DNA-seq (targeted, exome and whole genome sequencing)
    1. Disegno in silico of gene panel
    2. Sequence quality checks
    3. De-novo genome assembly
    4. Sequence alignment versus reference genomes
    5. Variant calling, annotation and prioritization (single samples, matched normal-tumor pairs, family trios)
    6. Gene-ontology and pathway enrichment analysis
    7. Analysis of CNV and large rearrangements
    8. Clonal evolution and heterogeneity in cancer
  2. Metagenomics
    1. RNA16S sequencing
    2. Identification of microbial communities composition
  3. RNA-seq
    1. Sequence quality checks
    2. De-novo transcriptome assembly
    3. Differential expression analysis of genes, isoforms and exons
    4. Analysis of fusion genes, circularized RNAs and trans-splicing events
    5. Detection of long non-coding RNAs
    6. Gene-ontology and pathway enrichment analysis
    7. Gene expression-dependent survival analysis
  1. Epigenetics
    1. Analysis of ChIP-Seq data (transcription factors, histones)
    2. Analysis of bisulfite sequencing data (Methyl-Seq)
    3. Differential methylation analysis in CpG and non-CpG regions
    4. HiC analysis


We can offer two solutions:

Standard solution. Release of results (for example: list of variants with annotations; genes differentially expressed with statistical data; binding sites etc.) without any further insights into the experiment by the service. In this case, a standard cost per sample is expected to be added to the sequencing cost.

Advanced solution. The goal, here, is to analyze the data but also give them meaning with specialist advice. In fact, the service collaborates with the design of the study, develops ad hoc analyzes for the study, suggests the best method to show the results etc ...


Prof. Mario Capasso (Supervisor)
Tel. 081 37 37 889
Dott. Alessandro Vito Lasorsa (technical and Scientific Advisor)