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test query with Phenopackets #40

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kingmanzhang opened this issue Apr 23, 2019 · 3 comments
Open

test query with Phenopackets #40

kingmanzhang opened this issue Apr 23, 2019 · 3 comments

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@kingmanzhang
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kingmanzhang commented Apr 23, 2019

@pnrobinson
Could you add me to your phenopacket repo?

Now we can call Phenomiser with multiple query lists. The app optimizes the query sequence so to avoid repeated IO. Entry point is:

public static List<List<Item2PValueAndSimilarity<TermId>>> batchQuery(List<List<TermId>> queries, List<DiseaseDB> dbs) {

It can also output the rank of the target disease if you provide one:

public static int[] batchFindRank(List<List<TermId>> queries,
List<TermId> targetDiseases, List<DiseaseDB> dbs){

@kingmanzhang
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kingmanzhang commented Apr 25, 2019

@pnrobinson Where are disease labels for those phenopackets?
https://github.com/monarch-initiative/hrmd/tree/master/data/casereports

@pnrobinson
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Take a look at the LIRICAL SimulateVcf class, e;g;

Phenopacket pp = ...//
if (pp.getDiseasesCount() != 1) {
    System.err.println("[ERROR] to run this simulation a phenoopacket must have exactly one disease diagnosis");
    System.err.println("[ERROR]  " + pp.getSubject().getId() + " had " + pp.getDiseasesCount());
    return; // skip to next Phenopacket
       }
Disease diagnosis = pp.getDiseases(0);
simulatedDisease = diagnosis.getTerm().getId(); // should be an ID such as OMIM:600102
    Disease diagnosis = pp.getDiseases(0);

@kingmanzhang
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oh, I see. It's already in the phenopacket.

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