GenOtoScope is a bioinformatics tool to classify the pathogenicity of variants associated with congenital hearing loss, based on ACMG/AMP guidelines.

This work was developed by L3S Research Center, an affiliated institute of Leibniz University Hannover, under the supervision of Human Genetics department of Medical School of Hannover.

To annotate and classify batches of WES (.vcf) files, use the command line interface (CLI).

The GenOtoScope CLI is provided through this repository.

The usage documentation of the CLI can be found at the wiki.

To classify single variants of interest, use the web application.

The GenOtoScope web interface is hosted by the Human Genetics department of Medical School of Hannover at: GenOtoScope web.

The usage documentation of the web interface is provided through the same link.

Send your general and usage questions on GenOtoScope Google group.

Submit your bug reports on repository issues.

This repository is the implementation of the research work: "GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss" (link).

Please, cite as:

@article{melidis2022genotoscope,
  title={GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss},
  author={Melidis, Damianos P and Landgraf, Christian and Schmidt, Gunnar and Sch{\"o}ner-Heinisch, Anja and von Hardenberg, Sandra and Lesinski-Schiedat, Anke and Nejdl, Wolfgang and Auber, Bernd},
  journal={PLOS Computational Biology},
  volume={18},
  number={9},
  pages={e1009785},
  year={2022},
  publisher={Public Library of Science San Francisco, CA USA}
}

GenOtoScope is copyright (c) 2021-2022 by Medical School of Hannover and L3S Research Center.

GenOtoScope is licensed under the GNU Affero General Public License. Please contact the authors to discuss how to contribute on this project or for a custom licensing.