@nilshomer CNV bounds matches SV position & SV CN inferred from SV VAF matches ΔCN. Need to define thresholds for consistent pos/Δ if you want ROC curves. Fig3 of the GRIDSS2 paper uses this approach for truth-free SV benchmarking. https://t.co/gIkKJr
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@ResearchWyatt 1) This is why I developed GRIDSS2 and single breakend variant calling capability (https://t.co/KhP2UPpEWK). Knowing a SV exists and what repeat it goes to is *extremely* useful for somatic SV analysi (breakpoint FNR goes from 10% to 3%)
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RT @BioDecoded: GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural varia…
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RT @BioDecoded: GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural varia…