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Thanks for Truvari, which we've found very useful. I do have some questions about place where Truvari doesn't appear to be collapsing variants and I'd like to understand this better, Here's an example of the
Any advice or insight would be appreciated. |
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Answered by
ACEnglish
Jan 31, 2023
Replies: 1 comment 1 reply
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The problem appears to be that the sequence similarity is turned on even though the ALT sequence isn't reported. I would suggest you separate out your e.g. <DEL> entries and run them without sequence comparison via |
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Answer selected by
shaze
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The problem appears to be that the sequence similarity is turned on even though the ALT sequence isn't reported. I would suggest you separate out your e.g. <DEL> entries and run them without sequence comparison via
truvari collapse --pctsim 0
.