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Ryo Sakai, Matthieu Moisse, Joke Reumers, Alejandro Sifrim, Raf Winand, Georgios A. Pavlopoulos, Andrew Vande Moere, Jan Aerts (Department of Electrical Engineering (ESAT-SCD), KU Leuven, Belgium; IBBT Future Health Department, Belgium)
Structural variation involving unbalanced (copy number) as well as balanced (inversions, translocations) alterations have been shown to play important roles in complex disease processes, such as cancer. Current sequencing and analysis methods can detect a broad range of these structural variation events with varying sizes, but the lack of tools to assess the biological impact of these changes remains a bottleneck. We developed an interactive visualization paradigm and tool to aid researchers in evaluating the various functional impacts of structural variation. It allows the user to directly compare different samples rather than only comparing each to the reference sequence to give insight and help formulate new hypotheses. Through working closely with the domain experts, both visual and interaction design is refined iteratively.