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The-Sequence-Ontology / SO-Ontologies

Collect of SO Ontologies
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non_protein_coding_variant #630

Open CristianRiccio opened 9 months ago

CristianRiccio commented 9 months ago

What is this request referring to? non-protein-coding variant

What is the name you would like SO to give the term? non_protein_coding_variant

What is the definition that you would like for this term? A variant occurring outside of protein-coding regions.

Synonyms

Parent Term

Relevant Publications PMID: 28482034 Capriotti, E., & Fariselli, P. (2017). PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants. Nucleic acids research, 45(W1), W247–W252. https://doi.org/10.1093/nar/gkx369

egchristensen commented 3 weeks ago

The cited literature seems to focus on coding and non-coding SNVs. SNV (SO:0001483) and CDS (SO:0000316) are already in the ontology. Would you help me understand the situation that can't be annotated using those two overlapping features?