Pipelines
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      Splicing Annotation

      If a variant falls within N bp of the splice site, it is annotated as splicing. Our tools employ two "splicing" definitions:

      • ACMG rule: defined as "within 2 bp of the splice site"
      • our own rule: defined as "within 10 bp of the splice site"

      Our tools also use the scSNV database (SNVs only) when evaluating ACMG rule BP7:

      bp7