gymreklab / STRDenovoTools

Toolkit for calling and analyzing de novo STR mutations
GNU General Public License v3.0
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"Isnew" column question #20

Open carballopablo opened 3 months ago

carballopablo commented 3 months ago

Dear MonSTR developers,

I am writing to you about a question we have about the "isnew" column. We are doing the analysis in a cohort of trios, so we do not have the unaffected child, and therefore no controls. Does this mean that the programme takes the parents as controls? We have done the analysis with the pedigree file putting the parents as both "-9" and "1", and the "isnew" column remains exactly the same, so we don't know how to interpret it. Does it refer to the combination of alleles (we have cases where the combination of the proband matches the combination of one of the parents and the column also shows a 1, and cases where the combination of the proband does not match any of the parents and shows a 0), to only one of the alleles...?

Thank you in advance,

Pablo