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Old 06-27-2016, 03:48 AM   #1
tristan dubos
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Location: France

Join Date: Dec 2015
Posts: 39
Default BRCA insertion left alignement : references (dbSNP)

Hi all,

I'm analyzing data from Myseq on BRCA and i have some problems about the results i obtained concerning INDEL after variant caller. In the figure you can see the position on IGV and the deletion corresponding to 32911870 del of T.
My first question is : If i am right this is a left alignment of my insertion ?

My second question concern the reference of the mutation :
I looked in a second time in dbSNP(v146) if i found this reference : 32911873 del T (rs397507666) which means the reference is a deletion on the end of the homo-polymer and then aligned on the rigth ?

Best regards

Tristan
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