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Somatic short variant discovery (SNVs + Indels)

Geraldine_VdAuweraGeraldine_VdAuwera Cambridge, MAMember, Administrator, Broadie
edited February 14 in Best Practices Workflows


Identify somatic short variants (SNVs + Indels) in a tumor-normal for an individual sample. Requires an appropriate Panel of Normals (PON).

Reference Implementations

Pipeline Summary Notes Github FireCloud
Somatic short variants tumor-normal pair T-N BAMs to VCF universal pending release Featured
Somatic short variants PON creation Normal BAMs to PON universal placeholder TBD

A brand new version of these workflows is about to be released and will be made available within the next few days, along with the relevant documentation.

Post edited by Geraldine_VdAuwera on


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