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Traynelis J.,* Silk M.,* Wang Q., Berkovic S.F., Liu L., Ascher D.B., Balding D.J., Petrovski S. (2017). Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. Genome Research (2017)


What is the Missense Tolerance Ratio?

The MTR aims to quantify the amount of purifying selection acting specifically on missense variants in a given window of protein-coding sequence. It is estimated across sliding windows of 31 codons (default) and uses observed standing variation data from the WES component of the Exome Aggregation Consortium Database (ExAC), version 2.0 (http://gnomad.broadinstitute.org)