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LYC-vio avatar LYC-vio commented on August 25, 2024

If not, I personally suggest you to use symbolic format, like:

...
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	.
chr1	32028	.	N	<INS>	6	PASS	SVLEN=64;SVTYPE=INS;END=32029;RE=6	GT	1/1
chr1	90367	.	N	<INS>	2	PASS	SVLEN=59;SVTYPE=INS;END=90368;RE=2	GT	1/1

from mamnet.

micahvista avatar micahvista commented on August 25, 2024

Dear LYC-vio:
Sorry for the late response, I have been working on the issue but with little progress. My plan is collect all query sequences supporting each SV call and produce a consensus sequence. Then try to remap the consensus sequence to reference genome and obtain the insert sequence. This approach will improve the breakpoint accuracy but currently my implementation is time consuming. I think I will fix this issue as soon as possible.
Thanks.
Hongyu Ding

from mamnet.

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