Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Recheck TANDEM:DUPs #224

Open
Irallia opened this issue Jul 20, 2022 · 0 comments
Open

Recheck TANDEM:DUPs #224

Irallia opened this issue Jul 20, 2022 · 0 comments
Assignees

Comments

@Irallia
Copy link
Collaborator

Irallia commented Jul 20, 2022

Our results from the mini example are giving us:

#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	MYSAMPLE
chr1	110	.	N	<DUP:TANDEM>	1	PASS	END=125;SVLEN=16;iGenVar_SVLEN=4;SVTYPE=DUP	GT	./.
chr1	181	.	N	<DUP:TANDEM>	1	PASS	END=188;SVLEN=8;iGenVar_SVLEN=7;SVTYPE=DUP	GT	./.
chr1	181	.	N	<DUP:TANDEM>	2	PASS	END=188;SVLEN=8;iGenVar_SVLEN=8;SVTYPE=DUP	GT	./.
chr1	509	.	N	<DUP:TANDEM>	1	PASS	END=529;SVLEN=21;iGenVar_SVLEN=9;SVTYPE=DUP	GT	./.

The real duplications are:
...GGG ATATATTT ATATATTT TAC... <- Tandem Duplication ref: (180, 188] tandem duplicated
...GCG TAACCCGGG TAACCCGGG TAACCCGGG TAACCCGGG TAACCCGGG TAC... Duplication in reference and read covered by SA tag ref: (509, 527] with copynumber=5

Jörg also raised the question why we calculate the sv length as difference +2. Originally posted by @joergi-w in #223 (comment)

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant