diff --git a/docs/classifications-and-ontologies.md b/docs/classifications-and-ontologies.md index da0c56b4..c3c3d598 100644 --- a/docs/classifications-and-ontologies.md +++ b/docs/classifications-and-ontologies.md @@ -144,17 +144,43 @@ This table is maintained in parallel with the [Beacon v2 documentation](http://d | [EFO](http://www.ebi.ac.uk/efo/EFO_0030063) | Beacon | [VCF](https://samtools.github.io/hts-specs/) | SO | GA4GH [VRS](https://vrs.ga4gh.org/en/latest/terms_and_model.html#copynumberchange)[^1] | Notes | | ------------------------------------------- | ------------------------------------------------------------------------------ | -------------------------------------------- | -------- | ------------------------------------------------------------------------------------------------------------------------------------------------- | ----- | -| [`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070) copy number gain | `DUP`[^2] or
[`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742) copy_number_gain | [`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070) gain | a sequence alteration whereby the copy number of a given genomic region is greater than the reference sequence | -| [`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071) low-level copy number gain| `DUP`[^2] or
[`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742) copy_number_gain | [`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071) low-level gain | | -| [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072) high-level copy number gain | `DUP`[^2] or
[`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742) copy_number_gain | [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072) high-level gain | commonly but not consistently used for >=5 copies on a bi-allelic genome region | -| [`EFO:0030073`](http://www.ebi.ac.uk/efo/EFO_0030073) focal genome amplification | `DUP`[^2] or
[`EFO:0030073`](http://www.ebi.ac.uk/efo/EFO_0030073) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742) copy_number_gain | [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072) high-level gain[^4] | commonly but not consistently used for >=5 copies on a bi-allelic genome region, of limited size (operationally max. 1-5Mb) | -| [`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067) copy number loss | `DEL`[^2] or
[`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | [`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067) loss | a sequence alteration whereby the copy number of a given genomic region is smaller than the reference sequence | -| [`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) low-level copy number loss | `DEL`[^2] or
[`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | [`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) low-level loss | | -| [`EFO:0020073`](http://www.ebi.ac.uk/efo/EFO_0020073) high-level copy number loss | `DEL`[^2] or
[`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | [`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941) high-level loss | a loss of several copies; also used in cases where a complete genomic deletion cannot be asserted | -| [`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) complete genomic deletion | `DEL`[^2] or
[`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743) copy_number_loss | [`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) complete genomic loss | complete genomic deletion (e.g. homozygous deletion on a bi-allelic genome region) | +| [`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070)
copy number gain | `DUP`[^2] or
[`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742)
copy_number_gain | [`EFO:0030070`](http://www.ebi.ac.uk/efo/EFO_0030070) gain | a sequence alteration whereby the copy number of a given genomic region is greater than the reference sequence | +| [`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071)
low-level copy number gain| `DUP`[^2] or
[`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742)
copy_number_gain | [`EFO:0030071`](http://www.ebi.ac.uk/efo/EFO_0030071)
low-level gain | | +| [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072)
high-level copy number gain | `DUP`[^2] or
[`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742)
copy_number_gain | [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072)
high-level gain | commonly but not consistently used for >=5 copies on a bi-allelic genome region | +| [`EFO:0030073`](http://www.ebi.ac.uk/efo/EFO_0030073)
focal genome amplification | `DUP`[^2] or
[`EFO:0030073`](http://www.ebi.ac.uk/efo/EFO_0030073) | `DUP`
`SVCLAIM=D`[^3] | [`SO:0001742`](http://www.sequenceontology.org/browser/current_release/term/SO:0001742)
copy_number_gain | [`EFO:0030072`](http://www.ebi.ac.uk/efo/EFO_0030072)
high-level gain[^4] | commonly but not consistently used for >=5 copies on a bi-allelic genome region, of limited size (operationally max. 1-5Mb) | +| [`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067)
copy number loss | `DEL`[^2] or
[`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743)
copy_number_loss | [`EFO:0030067`](http://www.ebi.ac.uk/efo/EFO_0030067)
loss | a sequence alteration whereby the copy number of a given genomic region is smaller than the reference sequence | +| [`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) low-level copy number loss | `DEL`[^2] or
[`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743)
copy_number_loss | [`EFO:0030068`](http://www.ebi.ac.uk/efo/EFO_0030068)
low-level loss | | +| [`EFO:0020073`](http://www.ebi.ac.uk/efo/EFO_0020073)
high-level copy number loss | `DEL`[^2] or
[`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743)
copy_number_loss | [`EFO:0020073`](https://github.com/EBISPOT/efo/issues/1941)
high-level loss | a loss of several copies; also used in cases where a complete genomic deletion cannot be asserted | +| [`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069)
complete genomic deletion | `DEL`[^2] or
[`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) | `DEL`
`SVCLAIM=D`[^3] | [`SO:0001743`](http://www.sequenceontology.org/browser/current_release/term/SO:0001743)
copy_number_loss | [`EFO:0030069`](http://www.ebi.ac.uk/efo/EFO_0030069) complete genomic loss | complete genomic deletion (e.g. homozygous deletion on a bi-allelic genome region) | ------------------------------------------------------------------------------- + ## Sequence Variation (SNV Ontology) + +=== "Used terms" + +``` +id: SO:0001059 +label: sequence_alteration + | + |-id: SO:0000159 + | label: deletion + | + |-id: SO:0000667 + | label: insertion + | + |-id: SO:1000002 + | label: substitution + | + |-id: SO:0002007 + | label: MNV (multiple nucleotide variant) + | + |-id: SO:0001483 + label: SNV (single nucleotide variant) +``` + +=== "Extended tree" + ``` id: SO:0001059 label: sequence_alteration