Skip to content

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

@frequena

Description

@frequena

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.

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions