Development of software for the evaluation of gene variants and pathogenic mutations in humans

The new sequencing techniques will, in a few years, make it possible to sequence the genome of every person for 1,000 US dollars (i.e. to read the succession of 3 billion base pairs). In this, one will inevitably encounter numerous variations, the overwhelming majority of which are benign and only reflect the differences between people. We are continually developing and improving software which we make freely available via the Internet and which makes it possible for doctors and researchers to analyze these genetic variations automatically and to distinguish between benign and pathological changes. This simplifies the search for "a needle in a haystack".

The software is available on GeneDistiller and Mutation Taster.

Study Director: Prof. Dr. Markus Schülke-Gerstenfeld (WG Developmental Disorders of the Nervous System, NCRC, Pediatrics CVK)