Table 1 Description of the datasets used in this study
Name of datasets | Size | Description |
|---|---|---|
FLAGS | 100 | The top 100 of FrequentLy mutAted GeneS with rare (<1% allelic frequency) functional variants from dbSNPv138 and ESP6500 |
OMIM | 3099 | The list of protein-coding genes associated with human diseases from Online Mendelian Inheritance in Man [8] |
HGMD | 2691 | The list of protein-coding genes with damaging mutations (<1% allelic frequency) from Human Gene Mutation Database [28]. |
WES | 300 | Downloaded from Boycott et al. (2013) [7] - a list of novel genes implicated in human disorders based on whole exome sequencing studies, or novel/known pathogenic mutations discovered by whole-exome sequencing. |
Background | 18580 | The entire set of human protein-coding genes that have complete start and end translation annotations with a specified dN/dS ratio |