What LOH means in CANVAS
0
0
Entering edit mode
2.5 years ago
ManuelDB ▴ 110

Context:

I am developing a program that analyse CNV. The first thing this program does is filter and take only CNVs. I do this selecting variants which 5th column contains <CNV>

 1 753816 Canvas:GAIN:1:753816:813096 N <CNV> 10 PASS SVTYPE=LOH;END=813096 RC:BC:CN:MCC 87:18:2:2
3 26664139 Canvas:GAIN:3:26664139:32101159 N <CNV> 61 PASS SVTYPE=CNV;END=32101159 RC:BC:CN:MCC 1
18:6520:4:2
5 1000000 Canvas:REF:3:1000000:2000000 N . 61 PASS END=2000000 RC:BC:CN:MCC 118:6520:2:1

The application at the end tells me many things but one important value is if the CNV is GAIN or LOSS. I have been confused because I got some REF in the column where only should be GAIN or LOSS. I have been checking my application looking for errors until I have ensured that everything is ok. I have checked the VCF file and I have seen that there are variants like this

 chr13 26478278 Canvas:REF:chr13:26478279:38482776N <CNV> 40 PASS SVTYPE=LOH

I have been reading CANVAS documentation and don't find what is LOH

What is the difference between these two CNVs

 753816 Canvas:GAIN:1:753816:813096 N <CNV> 10 PASS SVTYPE=LOH;END=813096 RC:BC:CN:MCC 87:18:2:2
26664139 Canvas:GAIN:3:26664139:32101159 N <CNV> 61 PASS SVTYPE=CNV;END=32101159 RC:BC:CN:MCC 1
18:6520:4:2

Why some SVTYPE=LOH don't tell you if this is LOSS or GAIN

If I don't find out what that means. I am thinking on filter CNV based on the 7th column because I think that when SVTYPE is equal to CNV, the GAIN/LOSS is always given

CANVAS • 746 views
ADD COMMENT
1
Entering edit mode

LOH = loss of heterozygosity

The reference was heterozygous at the position, the sample is not anymore, so you have an LOH event. This can of course be anything, from starting from a SNV point mutation, it doesn't need to be a structural variant.

ADD REPLY

Login before adding your answer.

Traffic: 2742 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6