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

Heteroplasmy results interpretation #226

Open
LiviaT93 opened this issue Mar 2, 2024 · 0 comments
Open

Heteroplasmy results interpretation #226

LiviaT93 opened this issue Mar 2, 2024 · 0 comments

Comments

@LiviaT93
Copy link

LiviaT93 commented Mar 2, 2024

In the Heteroplasmy vcf files reporting the heteroplasmic positions, the DP is reporting the "raw depth": does it mean the number of reads supporting that variant, or the number of reads covering that position in general? Usually for the vcf files the correct answer is the second, but in this case I do not understand, because I also assembled my mitogenomes by mapping and I know that the coverage I have on those positions is much higher than the values I get in the attached files. Also, I made two trials: once I used heteroplasmy function after filtering the reads with the filtering script you provide; another time I used heteroplasmy function without filtering the reads, and in both cases I obtained almost the same coverage on the variants (which is unexpected, since in the non-filtered trial I would expect to have much more reads on the variant position...).

log_1616_het_nofilter.txt
Heteroplasmy_1616_het.txt
Heteroplasmy_1616_het_nofilter.txt
Homoplasmy_1616_het.txt
Homoplasmy_1616_het_nofilter.txt
log_1616_het.txt

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