August 7, 2018

Gene Mutation Frequency for discriminating private and causative mutations in Whole-Exome-Sequencing

Gene Mutation Frequency is a gene prioritization method based upon the number of Single Nucleotid Polymorphisms (SNP’S) and Insertions and Deletions (Indel’s) within a gene for ranking gene’s according to their mutation variance to distinguish causative mutations. This method was used to analyze whole-exome-sequencing data by patientwiseGMF from uk10k and non-patientwise GMF from EXaC.

patientwise GMF
non-patientwise GMF