Exomiser

There is a new Version of the Regulatory Mendelian Mutation (ReMM) score available with a bugfix on region chr17:79759050-81195210. Precomputed positions of hg19 can be downloaded here. [Read More]

Due to many request about the Regulatory Mendelian Mutation (ReMM) score we generated a small webpage including the main sources. You can find the ReMM score website here. [Read More]

The Genomiser, an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases is published in AJHG recently. Genomiser is included in the Exomiser framework. A Whole-Genome Analysis Framework for Effective Identification of... [Read More]

We released Exomiser version 7.2.2 which includes mainly bugfixes. For more information see the Changelog CLI. [Read More]

We included a first draft of the Exomiser manual with installation instructions and a quickstart guide. [Read More]