Table 4 Common annotation sources available in each tool
From: Critical assessment of on-premise approaches to scalable genome analysis
OpenCGA | GEMINI | Hail | BCFTools | SnpSift | |
|---|---|---|---|---|---|
1kG | \(\checkmark\) | \(\checkmark\) | |||
CADD | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | ||
ClinVar | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | ||
COSMIC | \(\checkmark\) | \(\checkmark\) | |||
dbSNP | \(\checkmark\) | \(\checkmark\) | |||
Ensembl | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | ||
ESP | \(\checkmark\) | \(\checkmark\) | |||
GERP | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | ||
gnomAD | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | ||
Polyphen | \(\checkmark\) | \(\checkmark\) | |||
Others | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) | N/A | dbNFSP |