swvanderlaan / MetaGWASToolKit

A ToolKit to perform a Meta-analysis of Genome-Wide Association Studies
https://swvanderlaan.github.io/MetaGWASToolKit/
MIT License
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Meta-analysis: total tallies over variants #20

Open swvanderlaan opened 6 years ago

swvanderlaan commented 6 years ago

In the summary of the meta-analysis (below) there is a total tally of variants per category. However, this seems to be a bit of (error file reports many more variants that were not found in the reference) and therefore needs double checking.

Example error-file output:

* chrX:86581529:A_G in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86775594:C_T in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86777100:C_A in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86780351:T_C in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86783054:G_T in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86783867:G_A in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86799180:G_T in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86855260:T_C in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86859763:T_C in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.
* chrX:86860584:C_A in [ DATA/MODEL1/META/TEMP/meta.all.unique.variants.reorder.split ] is not present in the Variant Annotation File  -- skipping it.

In this example there 4,856 variants skipped. But these are not reported in the summary below as uninformative or something.

Example summary:

++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++
Summarizing this meta-analysis.

* Number of variants in meta-analysis       : 122019.
* Number of variants not in the Reference   : 0.
* Number of uninformative variants skipped  : 0.

          Study name     Allele flips     Sign [beta] flips     Informative variants
          ----------     ------------     -----------------     --------------------
   study1                                   0                     0                   122019
   study2                                   0                     0                   106835
xEmz commented 1 year ago

Read the total lines of the .errors file if that's possible.

MVPuijk commented 1 year ago

Variants that are not in the reference are now counted properly. On the other hand, variants that are uninformative can be counted twice. Like in the example ERROR output below:

* For chr4:69501357:T_TAGAG there is information from one study or none -- so skipping this variant. * For chr4:69501357:T_TAGAG the effective sample size = 0 -- so skipping this variant.

This results in it counting 2 uninformative variants skipped, despite the fact that these are just 2 errors for the same variant.