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Phenotype-only, and VCF without sample analysis #522

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antonylebechec opened this issue Sep 27, 2023 · 0 comments
Open

Phenotype-only, and VCF without sample analysis #522

antonylebechec opened this issue Sep 27, 2023 · 0 comments

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@antonylebechec
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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,

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