Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

Update validation models for Copy Number variation #383

Merged
merged 1 commit into from Mar 14, 2022
Merged

Update validation models for Copy Number variation #383

Changes from all commits
Commits
Show all changes
1 commit
Select commit
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Jump to
Jump to file
Failed to load files.
Diff view
Diff view
30 changes: 21 additions & 9 deletions validation/models.yaml
View file
Open in desktop
@@ -1,19 +1,19 @@
Number:
-
-
in:
type: Number
value: 55
out:
ga4gh_serialize: '{"type":"Number","value":55}'
Gene:
-
-
in:
gene_id: ncbigene:384
type: Gene
out:
ga4gh_serialize: '{"gene_id":"ncbigene:384","type":"Gene"}'
SimpleInterval:
-
-
in:
end: 44908822
start: 44908821
Expand Down Expand Up @@ -262,21 +262,33 @@ Haplotype:
ga4gh_digest: i8owCOBHIlRCPtcw_WzRFNTunwJRy99-
ga4gh_identify: ga4gh:VH.i8owCOBHIlRCPtcw_WzRFNTunwJRy99-
ga4gh_serialize: '{"members":["-kUJh47Pu24Y3Wdsk1rXEDKsXWNY-68x","Z_rYRxpUvwqCLsCBO3YLl70o2uf9_Op1"],"type":"Haplotype"}'
CopyNumber:
AbsoluteCopyNumber:
- name: ">=3 copies APOE"
in:
copies:
comparator: '>='
type: IndefiniteRange
value: 3
subject:
gene_id: ncbigene:384
gene_id: ncbigene:348
type: Gene
type: AbsoluteCopyNumber
out:
ga4gh_digest: 5DNZrhIFslE6Eeo0CsDyQQERR6x7v9OE
ga4gh_identify: ga4gh:VAC.5DNZrhIFslE6Eeo0CsDyQQERR6x7v9OE
ga4gh_serialize: '{"copies":{"comparator":">=","type":"IndefiniteRange","value":3},"subject":{"gene_id":"ncbigene:348","type":"Gene"},"type":"AbsoluteCopyNumber"}'
RelativeCopyNumber:
- name: "Low-level copy gain of BRCA1"
in:
relative_copy_class: low-level gain
subject:
gene_id: ncbigene:348
type: Gene
type: CopyNumber
type: RelativeCopyNumber
out:
ga4gh_digest: xksSWn--_z28Qaj-Udlhot4OKqYGkywy
ga4gh_identify: ga4gh:VCN.xksSWn--_z28Qaj-Udlhot4OKqYGkywy
ga4gh_serialize: '{"copies":{"comparator":">=","type":"IndefiniteRange","value":3},"subject":{"gene_id":"ncbigene:384","type":"Gene"},"type":"CopyNumber"}'
ga4gh_digest: CUf7xZJd36mapcm0h3cOZR8kjM_Aj4UV
ga4gh_identify: ga4gh:VRC.CUf7xZJd36mapcm0h3cOZR8kjM_Aj4UV
ga4gh_serialize: '{"relative_copy_class":"low-level gain","subject":{"gene_id":"ncbigene:348","type":"Gene"},"type":"RelativeCopyNumber"}'
Text:
-
in:
Expand Down