NXQ_09688

rq turtle/ttl

• QC
• variant

Check there are no entries with a variant annotation with evidence from gnomAD that do not have a homozygote count

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>
PREFIX cv: <http://nextprot.org/rdf/terminology/>
PREFIX source: <http://nextprot.org/rdf/source/>

select distinct ?entry where {
  ?entry :isoform /:variant /:evidence ?ev.
  ?ev :assignedBy source:gnomAD.
  filter not exists {?ev :homozygote-count ?count.}
}

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v2("?count")
  v3("?entry"):::projected 
  v1("?ev")
  a1((" "))
  a2((" "))
  c6([":source/gnomAD"]):::iri 
  f0[["not  "]]
  subgraph f0e0["Exists Clause"]
    e0v1 --":homozygote-count"-->  e0v2
    e0v2("?count"):::projected 
    e0v1("?ev"):::projected 
  end
  f0--EXISTS--> f0e0
  f0 --> v1
  f0 --> c1
  f0 --> v2
  v1 --":homozygote-count"-->  v2
  v3 --":isoform"-->  a1
  a1 --":variant"-->  a2
  a2 --":evidence"-->  v1
  v1 --":assignedBy"-->  c6