Skip to content

Gene mutation script

Josip edited this page Jan 7, 2021 · 16 revisions

This script is downloading gene mutations for selected tissue from CosmicDB. After downloading CSV files with samples and gene mutations, it changes FASTA sequence of gene with top 10 mutations.

CosmicDB allows download of already filtered gene mutations for specific tissue, unlike gene expressions which have to be filtered for selected tissue in VINI.

getGeneMutations method is trying with 10 attempts to download mutations from CosmicDB. Sometimes CosmicDB randomly responds with 401(unauthorized) response code, so in that case script sleeps for 2sec and tries again with download request.

Types of mutation:

Substitution - missense

Substitution - nonsense

Substitution - coding silent

Deletion - in frame

Deletion - frame shift

Insertion - frame shift

Complex - deletion inframe

Complex - frame shift

Unknown