New high-throughput technologies and, above all, the next generation sequencing (NGS) technologies of whole-genome and whole-exome sequencing have made it easier to discover disease-associated genes and disease-causing mutations. Our MutationMining (MM) Team searches the data generated by NGS-based analyses to detect novel causative genes and mutations in patients with various rare genetic diseases and undiagnosed congenital syndromes.
The MutationMining strategy relies on an innovative bioinformatics pipeline and a multidisciplinary team of clinicians and researchers who collaboratively analyze the data and interpret the relevance of identified variants. This has proven to be a successful approach, leading to the identification of many disease-associated genes. In patients who had remained unsolved by previous genetic testing and whose data were then analyzed by the MM team on a research basis, we have identified new disease-associated genes or established a molecular diagnosis in more than 60 % of cases.
The MM team also aims to establish sustainable clinical and bioinformatics strategies for interpretation of potentially causative variants in whole-genome/exome sequencing, to define standardized procedures and to assure quality standards. Additionally, we work on developing structured and standardized diagnostic algorithms (indication criteria) to perform NGS-based whole-genome/exome sequencing in children and adults with an unclear diagnosis.
MM Team Leader
Dr. Yun Li, Tel. +49-551-39-65129, email@example.com
MM Team Members
Halima Alachram, Loukas Argyriou, Angelika Biedermann, Berenike Bögeholz, Nina Bögershausen, Karin Boß, Peter Burfeind, Marianne Gaubert, İpek Ilgın Gönenç, Fabienne Heese, Irem Kalay, Silke Kaulfuß, Uwe Kornak, Alexandr Kuranov, Maria Kuzyakova, Yun Li, Yasmin Mehraein, Christian Müller, Daniel Owrang, Silke Pauli, Julia Schmidt, Svenja Vishniola, Barbara Vona, Alexander Wolff, Bernd Wollnik, Gökhan Yigit, Zijin Zhang, Arne Zibat
Novel disease-associated genes identified (selected)
ANO6, BRD3, KNTC1, NARF, MESDC2, PPM1D, RMI1, SEC24D, SMCHD1, SUZ12, TRAIP