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

incorrect supporting read counts and VAF for inversions #54

Open
abelhj opened this issue Sep 29, 2023 · 0 comments
Open

incorrect supporting read counts and VAF for inversions #54

abelhj opened this issue Sep 29, 2023 · 0 comments

Comments

@abelhj
Copy link

abelhj commented Sep 29, 2023

Hi, I think I've encountered a bug in the calculation of supporting read counts and VAFs for inversions (and probably other rearrangments?).

Inversions have 2 distinct breakpoints, and are supported by reads in both the +/+ and -/- orientations. The number of supporting variant reads VR in the final output is only the count of reads in the +/+ orientation, but the TR (the denominator in the VAF calculation) is the sum of the depths at both breakpoints, making the final VAF approximately 1/2 of the correct value.

abelhj@compute1-exec-257:/storage1/fs1/timley/Active/aml_ppg/analysis/longread/ont/dorado_test/nanomonsv_test/output0a$ cat  test_tumor.realignment.tumor.sread_count.0.txt | grep chr16  | grep 1572 | grep 670
chr16	15721325	+	chr16	67089059	+	---	r_185	62	5
chr16	15721333	-	chr16	67089053	-	---	r_184	62	16
abelhj@compute1-exec-257:/storage1/fs1/timley/Active/aml_ppg/analysis/longread/ont/dorado_test/nanomonsv_test/output0a$ cat  test_tumor.realignment.control.sread_count.0.txt | grep chr16  | grep 1572 | grep 670
chr16	15721325	+	chr16	67089059	+	---	r_185	51	7
chr16	15721333	-	chr16	67089053	-	---	r_184	51	9
abelhj@compute1-exec-257:/storage1/fs1/timley/Active/aml_ppg/analysis/longread/ont/dorado_test/nanomonsv_test/output0a$ cat test_tumor.nanomonsv.result.vcf | grep chr16 | grep 1572
chr16	15721325	r_185_0	T	T]chr16:67089059]	.	Too_low_VAF	SVTYPE=BND;MATEID=r_185_1	TR:VR	62:5	51:7
chr16	67089059	r_185_1	C	C]chr16:15721325]	.	Too_low_VAF	SVTYPE=BND;MATEID=r_185_0	TR:VR	62:5	51:7
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