 Hello, I'm Paulo Gaspar from the Bioinformatics Group of the University of Aveiro, and I'm going to talk about our paper, VarioWalks Automatic Detection and a Notation of Human Genetic Variants. This project was made together with the Center for Medical Genetics at El Porto and the Department of Genetics at the University of Leicester. As you may know, personalized medicine is one of the most important and fastest growing areas of research. And we believe that preventive medicine will eventually be mainly based in personal genetics as the price of genome sequencing decreases. In this paper, we argued that the amount of genetic information currently being generated for diagnostic purposes requires that bioinformatic tools are built for the analysis of the transformation of this data into usable knowledge. Therefore, we propose a new tool called VarioWalks that supports the workflow of sequence analysis for single gene research. I'm now going to talk about the main features of VarioWalks. This is the initial interface of VarioWalks. To start working, write a gene symbol and click search. I'm going to use collagen type 1, alpha 1, for demonstration purposes. VarioWalks obtains up-to-date sequences and acts on information from locus reference genomic and when not available from NCBI reference sequence database. Then it obtains variants from WAV, which in turn already integrates variants from locus-specific databases and the BASNIP. All the information is shown in this interface. At the top, the entire gene is shown with axons in blue and introns in purple. This is used to navigate through the gene and select specific zones to explore. When I click on axon 32, the gene sequence is displayed along with its amino acid sequence, known variants, and genomic CDNA and amino acid numberings. The axon number is also shown at the beginning of each axon and when there's more than one scheme available, the user is asked to choose one. Clicking on a variant displays details about the variant in the information panel, such as the variant type, a link to the source, the reference sequence, and an AGVS description, which you can click to copy to the clipboard. Each type of variant has a different color and when several variants are known in the same region, an expandable panel is shown. Navigating through variants and axons is also possible, using the navigation panel, as well as selecting which variants' types should be displayed. Now I'm going to select another gene, the Myot tubularine 1. Variobox allows opening patient trace files in several formats. I'm opening two AV1 trace files for a patient in forward-reverse formats, which are seamlessly merged and shown in the interface. The region in the files is now displayed and Variobox automatically identifies and annotates variants using AGVS nomenclature. When reading traces, Variobox also analyzes the chromatograms to calculate nucleotide confidence levels, shown as the background color of each nucleotide, ranging from red to green, and to detect atrozygosity in variants. These are the main features of Variobox and future functionalities include automatic pathogenicity prediction of variants and the ability to directly upload variants to online databases. For more details consult our paper, have a nice reading.