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gene.tsv output file empty when run using --prefix phenotype-only #478

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julesjacobsen opened this issue Feb 27, 2023 · 0 comments
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@julesjacobsen
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In this case Exomiser should be producing an empty variant.tsv file (even when a VCF is provided) and just performing a phenotype profile match against the gene models in the database. This will produce a much worse result than when run using a VCF and a phenotype, so a warning should be given when this is done.

Exomiser will now only load an analyse a VCF when a variant-dependent analysis step is given in the analysis section, whereas previously it would load the VCF, but would not fully annotate it so would produce a sub-par analysis.

Exomiser would also happily produce no analysis at all when given no analysis steps to run. This should produce an error.

julesjacobsen added a commit that referenced this issue Feb 28, 2023
Update GeneScoreRanker to return GeneScores when no variant prioritisation steps were run.
Update AbstractAnalysisRunner to slightly reduce logging verbosity.
Add new AbstractAnalysisRunner.genesToScore() abstract method.
Update SimpleAnalysisRunner and PassOnlyAnalysisRunner with new genesToScore() method
Update ExomiserTest to use new exomiser-test.vcf
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