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Variant Annotation: PossibleDeNovo

louwslouws San FranciscoMember


I used the variant annotator on a multi sample vcf and I am happy to report that it worked great (especially being tree reducible). I had a question that I could not find in the documentation. For each variant call it the annotator would either declare a sample to be a "hiConfDeNovo" or a "loConfDeNovo" or there would be no assessment whatsover (indicating I suspect no De Novos for that variant call).

My question: What defines a "hiConfDeNovo" and what defines a "loConfDeNovo" as it is used by the annotator. If there was some documentation I had overlooked please let me know, otherwise any insight is much appreciated.

Thank you as always

Best Answer


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