I tried to understand more about preset "phenotype-only" available in jar. Do you have any doc on that preset?
Especially, I would like to analyse a list of variants (VCF without sample) to retrieve annotations depending only on variant information/annotation, not on any sample information (such as ACMG, or any pathogenicity level). Is there a way to do this? As I understand, the sample.yml need a sample id.
Dear Exomiser team,
I tried to understand more about preset "phenotype-only" available in jar. Do you have any doc on that preset?
Especially, I would like to analyse a list of variants (VCF without sample) to retrieve annotations depending only on variant information/annotation, not on any sample information (such as ACMG, or any pathogenicity level). Is there a way to do this? As I understand, the sample.yml need a sample id.
Moreover, thank you for your tool!
Best regards,