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effects "all" does not catch empty annotations #1578

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stolpeo opened this issue Apr 22, 2024 · 7 comments · Fixed by #1579
Closed

effects "all" does not catch empty annotations #1578

stolpeo opened this issue Apr 22, 2024 · 7 comments · Fixed by #1579
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@stolpeo
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stolpeo commented Apr 22, 2024

Setting the effects to catch all annotations (all) (also used by preset impact to any) does not include variants that have no annotation at all. Users expect to catch all variants when they loosen the settings as much as possible. The postgres query looks like this;

variants_smallvariant.refseq_effect && cast(array[
   "3_prime_UTR_exon_variant",
   "3_prime_UTR_intron_variant",
   "5_prime_UTR_exon_variant",
   "5_prime_UTR_intron_variant",
   "coding_transcript_intron_variant",
   "complex_substitution",
   "direct_tandem_duplication",
   "disruptive_inframe_deletion",
   "disruptive_inframe_insertion",
   "downstream_gene_variant",
   "exon_loss_variant",
   "feature_truncation",
   "frameshift_elongation",
   "frameshift_truncation",
   "frameshift_variant",
   "inframe_deletion",
   "inframe_insertion",
   "intergenic_variant",
   "internal_feature_elongation",
   "missense_variant",
   "mnv",
   "non_coding_transcript_exon_variant",
   "non_coding_transcript_intron_variant",
   "splice_acceptor_variant",
   "splice_donor_variant",
   "splice_region_variant",
   "start_lost",
   "stop_gained",
   "stop_lost",
   "stop_retained_variant",
   "structural_variant",
   "synonymous_variant",
   "transcript_ablation",
   "upstream_gene_variant"
]::varchar[] AS varchar[])

It should also be valid if no annotation is available in case all is set.

@stolpeo stolpeo changed the title effects all preset does not catch empty annotations effects "all" does not catch empty annotations Apr 22, 2024
@stolpeo
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stolpeo commented Apr 22, 2024

Not sure if we really want this or if this would cause to much artifacts. There could also be just a checkbox to disable the effect filter in the query so it shows even not annotated variants. I guess this is up for discussion.

@xiamaz
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xiamaz commented Apr 22, 2024

If users select all they might have very small regions of interest. I think this should be ok. Too many artifacts should be caught by Quality filters, not by this one.

@stolpeo
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stolpeo commented Apr 22, 2024

If the question comes up, disabling all effects shows no variants (as expected) variants_smallvariant.refseq_effect && cast('{}'::varchar[] AS varchar[]), because an entry does not overlap with anything in an empty list.

@xiamaz
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xiamaz commented Apr 22, 2024

@holtgrewe Should every variant in mehari theoretically have an annotation or is no annotation sane behavior?

@xiamaz
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xiamaz commented Apr 22, 2024

@stolpeo In default behavior "all" should also return unannotated variants. In this specific instance we also have annotation issues, so there might also be some resulting mehari changes.

@stolpeo
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stolpeo commented Apr 22, 2024

OK, could you prioritize this ticket? @xiamaz

@xiamaz
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xiamaz commented Apr 22, 2024

Prioritized. If change is small please handle soon, as this might allow users to work around potentially significant mehari annotation issues.

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3 participants