GestaltMatcher services are a collection of applications that can be
used to improve the quality of healthcare for patients with rare
disorders. By default, the web services are operated on secure
servers located in Germany. If you'd rather be interested in
deploying the services locally at your clinic or in a private cloud,
feel free to contact us. A team of experienced software engineers,
computer scientists, and bioinformaticians would be happy to assist
you in providing NGP in accordance with your data security
GestaltMatcher database (GMDB) is an online
repository of curated case reports of patients with rare disorders.
Each entry consists of clinical features annotated with HPO
terminology, a molecular diagnosis if available, and medical imaging
data. GMDB is accessible to registered clinicians for reference, and
computer scientists for training, and testing. GMDB is compliant
with the FAIR principles
and maintained by the Arbeitsgemeinschaft
für Gen-Diagnostik e.V. (AGD). AGD is a non-profit entity that is
funded by membership fees and donations from
Eva-Luise und Horst Köhler Stiftung
and Wirtgen Stiftung.
are open-source and published in peer-reviewed scientific journals.
The source code can be found in these GitHub repositories.
The work is funded by
public research funding unless otherwise indicated. Details can be
found in the funding section of the papers.
Scientific soundness of
next-generation phenotyping and technical performance:
Hsieh, 2019 (PEDIA),
Clinical utility and compliance
with FAIR principles: