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Restrict assembly contig anchor to SV anchoring reads #213

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d-cameron opened this issue May 13, 2019 · 1 comment
Open

Restrict assembly contig anchor to SV anchoring reads #213

d-cameron opened this issue May 13, 2019 · 1 comment

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@d-cameron
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  • Don't assemble any reads not providing support for the breakend contig being assembled
  • Pad contig anchor with Ns when there are gaps in reference support
@d-cameron
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SC/ASC annotations cannot be used for variant linking/phasing if local assembly are included as the assembly anchor is not restricted to reads that support the SV. In the HMF cohort (4000 WGS samples, ~90x coverage), around 2/3 of assembly contigs extended past their linked SV (which is bad).

The work-around for this is to remove local assemblies from these annotations until this issue is
resolved at the assembly stage.

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