Bioinformatics

The Bioinformatic Unit, established 30 years ago, has a strong expertise in genome analysis, ranging from the assembly and scaffolding processes to genome annotation and annotation query systems.

In the last ten years, we specialized in NGS data analysis: reads alignment, variant calling, variant annotation and prioritization, transcriptome and miRNA analysis, ChipSeq. Our latest developed tool is QueryOr, designed to facilitate the analysis of human variants from exome and genome sequencing (publication).

Besides, we develop and maintain custom tools to better serve the community (Genomes): we developed a query platform to retrieve annotated genes statisfying multiple requests, a contigs browser to assist scaffolding of unfinished genomes, as well as a custom BLAST to Browser interface and other accessory tools.

To request any bioinformatic service, please contact us at ngs@cribi.unipd.it.