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

Add heterozygosity test #40

Open
marcus1487 opened this issue May 12, 2017 · 1 comment
Open

Add heterozygosity test #40

marcus1487 opened this issue May 12, 2017 · 1 comment

Comments

@marcus1487
Copy link
Owner

New subcommand to identify regions with heterozygous bases. Should be some type of multimodal versus unimodal test. Will also have to filter out off-by-one regions, maybe by offset testing.

@marcus1487
Copy link
Owner Author

marcus1487 commented Jun 23, 2017

This test will likely have to come after a major overhaul in order to fix "off-by-one" (OBO) base alignment errors as these regions look very similar to heterozygous sites.

The OBO fix follows a seed and extend algorithm. This would proceed as follows:

  1. Create squiggle reference
    • Median signal at each base across reads, excluding bases where too many reads do not fall within a particular range (determined statistically)
  2. Identify stretches of reads where the signal matches better up or downstream one base for two or more consecutive bases
  3. Extend those identified regions by as many bases as can confidently included in the off-by-one (OBO) region
  4. For each such identified segment of a read, identify one segment to one side of the OBO region to remove and add one segment on the other side of the OBO region (as appropriate to shift the OBO region into phase with the squiggle reference).
  5. Iterate.

This should produce a much cleaner overall alignment of raw signal which will allow heterozygosity tests and increase accuracy of modified base tests.

@marcus1487 marcus1487 changed the title Add heterologous test Add heterozygosity test Aug 2, 2017
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

No branches or pull requests

1 participant