Exomes, genomes and transcriptomes sequencing analytical services

The usage of next generation sequencing (NGS) technology in different areas of medicine and biomedical research is exponentially increasing and this is leading to the generation of an enormous amounts of data. SienaGenTest wants to provide the needed computational and biomedical knowledge to analyze or re-analyze these data.

If you are a researcher who needs an experienced team in analyzing exomes, genomes, transcriptomes data, contact us. Likewise, if you have your own exome/genome done and you still lack a definitive diagnosis, or if you still have unanswered questions go ahead and contact us.

Upload your experiment

The starting point for the analysis can be either the raw results of the experiments (e.g. fastq files) or the results of previous processing (e.g. bam files, vcf files). Clinical information may also be integrated into the analytical procedure. The collection of information will be managed through consultation with specialized medical personnel.

The Analytical pipeline

The experiment is analyzed using algorithms developed by SienaGenTest to evaluate the relevant clinical information. The analysis is carried out by combining experimental data with information extracted from databases (e.g. Pubmed). In this way it is possible to make the most of the enormous amount of knowledge present in the scientific community to identify the relevant information present in the experiment.

Results interpretation

Our analyses are always interpreted by experienced medical personnel. In this way, we combine the power of automatic analysis with artificial intelligence algorithms with the indispensable expertise of experts in the field. The interpretation of sequencing experiments is strongly linked to current scientific knowledge (new gene/mala disease relationships are continuously discovered). For this reason, SienaGenTest provides for the reinterpretation of data repeated over time.