Current sequencing technologies make if feasible to determine an individual's genome sequence and to identify possible disease causing variants. Most notably, structural variations can be identified using recent long-read sequencing technology. However, software tools for this purpose are still scarce.
The iGenVar project sets itself the following goals:
This project constitutes a collaborative effort of a consortium composed of the Computational Molecular Biology Department of the MPI for Molecular Genetics (Martin Vingron), the Algorithmic Bioinformatics group at Freie Universität Berlin (Knut Reinert), and the Institute of Medical Genetics and Human Genetics at Charité - Universitätsmedizin Berlin (Stefan Mundlos).
The project started on 1 April 2019 and terminates on 31 March 2022.