Determination of individual genomic variation from short- and long-read sequencing technologies

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:

1. Development of an efficient and user-friendly software tool that determines an individual’s genomic sequence, including structural genomic variations. The tool shall be designed to use Illumina short-read sequences plus long-read sequences.
2. Development of additional software to integrate data from developing alternative and additional technologies, like Oxford Nanopore (MinION), 10X genomics, or optical mapping.
3. Application of existing and newly developed tools to the determination and study of patient genomes.

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 terminated on 31 August 2022.