Deliverable
Specify a list of pathogenic control variants to use during normalization.
Nonsense Variants (Default)
Uses stop codon variants (*) as pathogenic controls.
{
"pathogenic_control": "nonsense"
}
Custom List of Pathogenic Variants
{
"pathogenic_control": ["E501K"],
}
Possible Use cases:
- Known deleterious mutations
- Spike-in experimental controls
- Disease-associated variants
Checklist
Estimated effort
Deliverable
Specify a list of pathogenic control variants to use during normalization.
Nonsense Variants (Default)
Uses stop codon variants (
*) as pathogenic controls.{ "pathogenic_control": "nonsense" }Custom List of Pathogenic Variants
{ "pathogenic_control": ["E501K"], }Possible Use cases:
Checklist
Estimated effort