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CNV-related contributions to ontologies

h-CNV community members have been contributors to several ontologies, for the representation of technologies relevant for CNV analysis as well as for the encoding of CNV data.

Ontology of bioscientific data analysis and data management (EDAM)

Experimental Factor Ontology (EFO)

Terms for genomic array types used in CNV detection were added to the existing DNA array concept (Michael Baudis):

  • large-insert clone DNA microarray (EFO:0010938)
  • oligonucleotide DNA microarray (EFO:0010939)
  • SNP array (EFO:0002703)
  • the term existed but was re-assigned as child of EFO:0010939
  • oligonucleotide DNA microarray (EFO:0010939)

There is also now (2022) a proposal for adding a subtree to EFO and/or SO for the representation of relative CNV values (see also below).

Sequence Ontology (SO)

  • SO copy number assessment subtree proposal on Github