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Incorrect SVLEN for translocations in VCF file #207

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ethering opened this issue Feb 15, 2024 · 0 comments
Open

Incorrect SVLEN for translocations in VCF file #207

ethering opened this issue Feb 15, 2024 · 0 comments

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@ethering
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Hi,
Using SURVIVOR v1.0.7 I've noticed that the size of translocations given in the VCF file generated by SURVIVOR simSV is not calculated correctly. For example, here is my .params file entry for TRA:

TRANSLOCATION_minimum_length: 9900
TRANSLOCATION_maximum_length: 10000
TRANSLOCATION_number: 10

and here's the BED and VCF file entries generated for two TRA events:

BED:

Chr1	1366162	Chr3	1731342	TRA
Chr1	1376151	Chr3	1741331	TRA
Chr2	1896233	Chr3	1742907	TRA
Chr2	1906139	Chr3	1752813	TRA

VCF:

Chr1	1366162	TRA12SURVIVOR	N	<TRA>	.	LowQual	PRECISE;SVTYPE=TRA;SVMETHOD=SURVIVOR_sim;CHR2=Chr3;END=1731342;SVLEN=365180	GT:GL:GQ:FT:RC:DR:DV:RR:RV	1/1
Chr1	1376151	TRA12SURVIVOR	N	<TRA>	.	LowQual	PRECISE;SVTYPE=TRA;SVMETHOD=SURVIVOR_sim;CHR2=Chr3;END=1741331;SVLEN=365180	GT:GL:GQ:FT:RC:DR:DV:RR:RV	1/1
Chr2	1896233	TRA13SURVIVOR	N	<TRA>	.	LowQual	PRECISE;SVTYPE=TRA;SVMETHOD=SURVIVOR_sim;CHR2=Chr3;END=1742907;SVLEN=-153326	GT:GL:GQ:FT:RC:DR:DV:RR:RV	1/1
Chr2	1906139	TRA13SURVIVOR	N	<TRA>	.	LowQual	PRECISE;SVTYPE=TRA;SVMETHOD=SURVIVOR_sim;CHR2=Chr3;END=1752813;SVLEN=-153326	GT:GL:GQ:FT:RC:DR:DV:RR:RV	1/1

The TRA lengths should be 9989 for the first TRA and 9906 for the second TRA. What's happening is that the SVLEN is being calculated by subtracting the start position on 'CHR2' (the receiving chromosome) from the VCF 'POS' coordinate.
For example, in the first TRA between Chr1 and Chr3, it's subtracting 1366162 from 1731342 and calculating it as an SVLEN of 365180 and this is also why there's a negative value for the second TRA between Chr2 and Chr3 (1742907 - 1896233 = -153326).

Cheers,
Graham

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