Section: New Results

Identifying Genetic Variant Combinations using Skypatterns

Participants : Alexandre Termier, Hoang-Son Pham [Genscale] , Dominique Lavenier [Genscale] .

Identifying variant combination association with disease is a bioinformatics challenge. This problem can be solved by discriminative pattern mining that uses a statistical function to evaluate the significance of individual biological patterns. There is a wide range of such measures. However, selecting an appropriate measure as well as a suitable threshold in some specific practical situations is a difficult task. In this work, we propose to use the skypattern technique which enables using combinations of measures to evaluate the importance of variant combinations without having to select a given measure and a fixed threshold (Pareto frontier). Experiments on several real variant datasets demonstrates that the skypattern method effectively identifies the risk variant combinations related to diseases [13].