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Add "intergenic" consequence #494

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holtgrewe opened this issue Jul 17, 2024 · 1 comment
Open

Add "intergenic" consequence #494

holtgrewe opened this issue Jul 17, 2024 · 1 comment
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enhancement New feature or request

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@holtgrewe
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Is your feature request related to a problem? Please describe.
We currently annotate variants on transcripts, intronic, upstream, and downstream. However, we don't annotate intergenic variants.

Describe the solution you'd like
Annotate intergenic variants as such intergenic_variant.

Describe alternatives you've considered
N/A

Additional context

@holtgrewe holtgrewe added the enhancement New feature or request label Jul 17, 2024
@tedil
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tedil commented Jan 3, 2025

The SO term is available and annotated only if there are no overlapping transcripts found, see

// Handle case of no overlapping transcripts -> intergenic.
if txs.is_empty() {
return Ok(Some(self.filter_ann_fields(vec![AnnField {
allele: Allele::Alt {
alternative: var.alternative.clone(),
},
gene_id: "".to_string(),
consequences: vec![Consequence::IntergenicVariant],
putative_impact: crate::annotate::seqvars::ann::PutativeImpact::Modifier,
feature_type: FeatureType::Custom {
value: "Intergenic".to_string(),
},
feature_id: "".to_string(),
feature_biotype: vec![FeatureBiotype::Noncoding],
rank: None,
distance: None,
strand: 0,
hgvs_t: None,
hgvs_p: None,
tx_pos: None,
cds_pos: None,
protein_pos: None,
gene_symbol: "".to_string(),
messages: None,
}])));
}

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Labels
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