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
|