Analysis of genetic variants

The Genetic Variant Analysis Service offers the possibility of identifying genetic variants of different organisms and their location and biological implications.

This process begins with quality inspection and preprocessing of sequencing reads. The helpful readings are then aligned to a given reference. Inspection of the alignment allows the identification of different gene variants that may include SNPs (single nucleotide polymorphisms), InDels (insertions or short deletions), and structural (such as duplications or large deletions). Subsequently, a quality analysis, filtering, and prioritization of the identified variants is performed. Finally, we proceed to the functional annotation of the most significant variants.