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lobSTR seems to fail when an N is located in the middle of the STR

Open bkohrn opened this issue 7 years ago • 0 comments

lobSTR seems to mis-genotype reads (or at least some reads) where the STR (in this case, a poly-G region) has an N in the middle. Is there any way to fix/change this behavior?

Example:

The following read was put into lobSTR (STR bold): TCTCGGCATCAACATCCAGAGTTTAGGGACCATGTCCCAGTCTCTGTGAGGTGGATGGGAAGTCAACATTAGTTGACTGAGCACCACCTGCGTGGAAGATGCAGCCCCCCCCNGCCCCATCACTGGGAATACAGTGCTGAGCAGGACAGCACCTGATGTGCGAGGGGGAAGACAGACAACAAATACATAAGCAATGGAATGTACCTTTGGCAGGCCGAT

The tags attached to the read by lobSTR afterwards are:

XS:i:46990694 XE:i:46990706 XR:Z:C XD:i:-5 XC:f:13 XG:Z:CCCCCCC XX:i:1 XM:i:-1 XQ:i:41 RG:Z:lobSTR;s66;spike_in NM:i:7

I believe this to be incorrectly genotyped, as the tags should be: XS:i:46990694 XE:i:46990706 XR:Z:C XD:i:1 XC:f:13 XG:Z:CCCCCCCCNGCCCC ...

Is there an easy way to fix this behavior?

As a note, we can't use HipSTR for this application because we want a genotype per read, and HipSTR does not allow us to get the level of detail we need for our studies (effectively, pooled populations of cells with unknown population size).

Brendan

bkohrn avatar Jul 19 '18 16:07 bkohrn