dnanexus-rnd / GLnexus

Scalable gVCF merging and joint variant calling for population sequencing projects
Apache License 2.0
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More details needed on configuration options for custom config #285

Open jcm6t opened 1 year ago

jcm6t commented 1 year ago

On the configuration doc page the section under liftover fields is TODO. While most of the fields are self-explanatory, it would be helpful to have confirm some details on a couple of the fields. In lieu of completing the whole doc section, I've posed a couple questions here that might help to fill out some of the details for us and others and would be quicker and easier to answer than updating the configuration page ;-) We could try to read the code but it is not always clear.

  1. number: basic does this mean just single entry for all variants ? (alleles and genotype are clear enough)

  2. default_type: does this mean that all variants will have this value unless the specific variant type has this format field ?

  3. count: 0 (or 1) we can guess but good to confirm this.

  4. Any other options not listed in the example ? https://github.com/dnanexus-rnd/GLnexus/wiki/Configuration

  5. Separate unifier_config: question We noticed that with a custom config the unifier_config: has a default which we did not explicitly specify in the custom yaml.

drop_filtered: false

We are wondering - what is the downstream effect of drop_filtered: false. If the FILTER is non-PASS, does glnexus consider them to be true called variants ?

Thanks very much.