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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,
The text was updated successfully, but these errors were encountered:
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,
The text was updated successfully, but these errors were encountered: