Is your feature request related to a problem? Please describe.
Need to support DRAGEN SV and CNV calls for analysis in seqr.
Describe the solution you'd like
Add support for DRAGEN SV and CNV calls. Technical docs from Ben W attached. DRAGEN_SVs_for_seqr__code.zip
DRAGEN SVs for seqr.pdf
I converted Ben's HTML file to PDF so I can upload here. Original HTML can be found in the DRAGEN SV to seqr slack channel.
SV data for 178 RGP samples are here - https://app.terra.bio/#workspaces/gregor-consortium/TGG_DRAGEN_SV_Reprocessing/data
Is your feature request related to a problem? Please describe.
Need to support DRAGEN SV and CNV calls for analysis in seqr.
Describe the solution you'd like
Add support for DRAGEN SV and CNV calls. Technical docs from Ben W attached. DRAGEN_SVs_for_seqr__code.zip
DRAGEN SVs for seqr.pdf
I converted Ben's HTML file to PDF so I can upload here. Original HTML can be found in the DRAGEN SV to seqr slack channel.
SV data for 178 RGP samples are here - https://app.terra.bio/#workspaces/gregor-consortium/TGG_DRAGEN_SV_Reprocessing/data