Figure 1
From: Identification of genomic features in the classification of loss- and gain-of-function mutation
The flow chart of this study. An overview of the analysis of LoF and GoF features is given. First, from the literature, we obtained LoF and GoF mutation information. Next, we applied a data-preprocessing step. During this step, we converted amino acid locations into genomic locations and amino acid residues into 3-mer nucleotide base alleles, after which we determined mutation subtypes. In addition, mutations whose reference allele was not matched to a reference genome or mutations published before 2009 were removed. Next, with the remaining mutations, features which have discriminative power between LoF and GoF mutations were extracted. Lastly, three classifications were implemented using the selected features to confirm whether the features can be used to classify the two classes.