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5 changes: 5 additions & 0 deletions exomiser-core/pom.xml
Original file line number Diff line number Diff line change
Expand Up @@ -36,6 +36,11 @@
<arrow.version>18.2.0</arrow.version>
</properties>
<dependencies>
<dependency>
<groupId>com.github.p2gx.boqa</groupId>
<artifactId>boqa-core</artifactId>
<version>0.1.0-SNAPSHOT</version>
</dependency>
<!--Jannovar is used for providing known gene annotations on variants -->
<dependency>
<groupId>de.charite.compbio</groupId>
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Original file line number Diff line number Diff line change
@@ -0,0 +1,64 @@
package org.monarchinitiative.exomiser.core.prioritisers;

import com.github.p2gx.boqa.core.DiseaseData;
import org.monarchinitiative.exomiser.core.model.Gene;
import org.monarchinitiative.exomiser.core.prioritisers.service.PriorityService;

import java.nio.file.Path;
import java.util.HashSet;
import java.util.List;
import java.util.Set;
import java.util.stream.Stream;

public class BoqaPriority implements Prioritiser<BoqaPriorityResult> {

public static class ExomiserDiseaseData implements DiseaseData {
private final PriorityService priorityService;

public ExomiserDiseaseData(PriorityService priorityService) {
this.priorityService = priorityService;
}

@Override
public int size() {
return 0;
}

@Override
public Set<String> getDiseaseIds() {
return Set.of();
}

@Override
public Set<String> getIncludedDiseaseFeatures(String diseaseTermId) {
return new HashSet<>(this.priorityService.getHpoIdsForDiseaseId(diseaseTermId));
}

@Override
public Set<String> getDiseaseGeneIds(String s) {
return Set.of();
}

@Override
public Set<String> getDiseaseGeneSymbols(String s) {
return Set.of();
}
}




public BoqaPriority(PriorityService priorityService, Path hpOboPath){
DiseaseData diseaseData = new ExomiserDiseaseData(priorityService);
}

@Override
public Stream<BoqaPriorityResult> prioritise(List<String> hpoIds, List<Gene> genes) {
return Stream.empty();
}

@Override
public PriorityType priorityType() {
return PriorityType.BOQA_PRIORITY;
}
}
Original file line number Diff line number Diff line change
@@ -0,0 +1,23 @@
package org.monarchinitiative.exomiser.core.prioritisers;

public record BoqaPriorityResult() implements PriorityResult{
@Override
public int geneId() {
return 0;
}

@Override
public String geneSymbol() {
return "";
}

@Override
public double score() {
return 0;
}

@Override
public PriorityType priorityType() {
return null;
}
}
Original file line number Diff line number Diff line change
Expand Up @@ -36,6 +36,8 @@ public enum PriorityType {
PHIVE_PRIORITY,
//Prioritises against OMIM data
OMIM_PRIORITY,
// Bayesian Ontology Query Algorithm
BOQA_PRIORITY,
//None - for when you don't want to run any prioritisation
NONE

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