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Add Genotype to Phenotype to Monarch-KG/app (sup) #715

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8 of 17 tasks
sagehrke opened this issue May 22, 2024 · 0 comments
Open
8 of 17 tasks

Add Genotype to Phenotype to Monarch-KG/app (sup) #715

sagehrke opened this issue May 22, 2024 · 0 comments

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@sagehrke
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sagehrke commented May 22, 2024

Genotype ingests

  • Alliance Genotype Ingest 698
  • Confirm that all IMPC models are in Alliance Genotype files (accounting for release cycles) 771

Phenotype ingests

  • Alliance phenotype association ingest 700
  • ZFIN genotype to phenotype ingest 702

Allele ingests

  • Ingest Alleles from Alliance Variant-Allele file (TODO: create issue)

Variant ingests

Data modeling

  • Add biolink predicates to support allele to genotype

API/UI Support

  • Support genotype names in search and node page
  • Show genotype to phenotype associations in associations section
  • Show allele to gene associations (May need an ingest for this?)
  • Show allele to genotype associations
  • Show gene to genotype associations? (do we need to ingest or infer these?)

Data Export

  • Produce tsv export files for genotype associations

Semsimian

  • Support searching for disease models in Semsimian / Phenotype Explorer

Exomiser?

  • Look at whether Exomiser can import genotypes from monarch-kg
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