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Aggregation method (variant call -> variant region) removes variant type information #43

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frequena opened this issue Nov 3, 2020 · 0 comments

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@frequena
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frequena commented Nov 3, 2020

Dear dbVar team, I have a suggestion about the method to aggregate variant calls into a variant region. Currently, you are aggregating independently of the variant type (deletion or duplication). The aggregation of multiple CNVs is a very convenient step, especially for clinical interpretation. Unfortunately, this approach removes the variant type information of the region. Therefore, I think a good alternative would be to keep the aggregation step but considering only CNVs with the same variant class. In this way, we would get a list of variant regions and their variant types associated.

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