"MutationTaster2" is the most-cited publication of the last ten years


Of all the Charité publications of the last ten years, "MutationTaster2: mutation prediction for the deep-sequencing age" has the highest Relative Citation Ratio (RCR) by far, a sign of its enormous scientific impact.

In their Nature Methods publication, the scientists present their self-developed software "MutationTaster2"—a further development of the "MutationTaster" program—which can be used to estimate whether changes in the DNA sequence of a gene might result in disease. The publication’s RCR value is 65. 

The Relative Citation Ratio (RCR) indicates how often a publication is cited per year compared to other publications in a respective research area. An RCR value of 2 means that the scientific article has been twice as influential as the norm.

During her Master and Doctoral thesis work from 2008 to 2013, the first author Dr. Jana Marie Schwarz developed the "Mutation Taster" software in cooperation with BIH professor for bioinformatics and translational genetics Dominik Seelow. At the time, both were part of NeuroCure PI Professor Markus Schülke’s group at Charité (Department of Pediatrics, Division of Neurology); his clinical expertise was instrumental in shaping the user-friendliness and ultimate success of the software.

Publications from between 2009-2019 whose first and/or last author was primarily affiliated with Charité (as of February 2020) were considered when determining impact.

Original publication:
Schwarz, J. M., D. N. Cooper, M. Schuelke, and D. Seelow. "Mutationtaster2: Mutation Prediction for the Deep-Sequencing Age." Nat Methods 11, no. 4 (Apr 2014): 361-2. https://dx.doi.org/10.1038/nmeth.2890.

Prof. Dr. Markus Schülke-Gerstenfeld
Charité - Universitätsmedizin Berlin Department of Pediatrics, Division of Neurology
Member of the NeuroCure Cluster of Excellence
E-mail: markus.schuelke(at)charite.de

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