Comment by dpeckett

Comment by dpeckett 3 days ago

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Similar experience here, was WGS and running the results against ClinVar came up empty[1] for known disease causing variants. Was not expecting that at all.

But I totally think this is more an absence of information than anything else. We all have a ton of de novo variation and that stuff is not going to be found in the databases.

1. Am carrying two recessive variants linked to a couple extremely rare developmental disorders (prevalence in live births of less than 1 in 10,000,000)