Genotype

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Rationale

To enable curators (disease curators and then maybe phenotype curators) to annotate directly to entire genotypes, the ?Genotype class has been proposed. The decision was made that any ?Genotype object should reflect the entire genotype of a particular worm or strain of worms, to the extent that it is known, rather than partial genotypes. The initial data model allows for direct associations to disease model annotations (curated in the disease OA), whereby genotype associations to diseases (DO terms) would then be made during the Postgres curation database dump.

Issues

Action items

?Genotype model

Initial proposal:

?Genotype	Genotype_name  UNIQUE  ?Text		//  e.g. “unc-1(e103);unc-2(e234)”
                Genotype_component	Gene	?Gene	  XREF  Component_of_genotype  #Evidence
                                        Variation ?Variation	XREF	Component_of_genotype UNIQUE Text // Zygosity
		                        Rearrangement	?Rearrangement  XREF	Component_of_genotype UNIQUE Text // Zygosity
		                        Transgene	?Transgene  XREF  Component_of_genotype UNIQUE Text // Zygosity
		                        // Zygosity text entry should be one of the following:
		                        // Homozygous, Heterozygous_with_wildtype, or Heteroallelic_combination
		                        Other_component	UNIQUE  ?Text  // Free text components including RNAi
		Disease_info  Models_disease  ?DO_term  XREF  Disease_model_genotype	
			      Modifies_disease  ?DO_term  XREF  Disease_modifier_genotype
			      Disease_model_annotation  Model_genotype  ?Disease_model_annotation  XREF  Genotype
    			  				Modifier_genotype  ?Disease_model_annotation  XREF  Modifier_genotype
		Species	UNIQUE ?Species
		Remark	?Text	                           
		Reference	?Paper	XREF	Genotype


Genotype Postgres Tables

  • gen_identifier
  • gen_curator
  • gen_name
  • gen_gene
  • gen_variation
  • gen_homo_variation
  • gen_hetwt_variation
  • gen_hetal_variation
  • gen_rearrangement
  • gen_homo_rearrangement
  • gen_hetwt_rearrangement
  • gen_hetal_rearrangement
  • gen_transgene
  • gen_homo_transgene
  • gen_hetwt_transgene
  • gen_hetal_transgene
  • gen_othercomp
  • gen_species
  • gen_remark
  • gen_paper
  • gen_nodump


Genotype OA

  • pgid - the postgres ID - NOT DUMPED
  • ID - gen_identifier - Genotype primary ID #Note: This is automatically assigned
  • Curator - gen_curator - NOT DUMPED - Curator (Dropdown)
  • Name - gen_name - Name - Big text
  • Gene - gen_gene - Gene - ?Gene (Multi-ontology)
  • Variation (Unknown Zygosity) - gen_variation - Variation - ?Variation (Multi-ontology)
  • Homozygous Variation - gen_homo_variation - Variation - ?Variation Homozygous (Multi-ontology)
  • Heterozygous (w/WT) Variation - gen_hetwt_variation - Variation - ?Variation Heterozygous_with_wildtype (Multi-ontology)
  • Heteroallelic Variation - gen_hetal_variation - Variation - ?Variation Heteroallelic_combination (Multi-ontology)
  • Rearrangement (Unknown Zygosity) - gen_rearrangement - Rearrangement - ?Rearrangement (Multi-ontology)
  • Homozygous Rearrangement - gen_homo_rearrangement - Rearrangement - ?Rearrangement Homozygous (Multi-ontology)
  • Heterozygous (w/WT) Rearrangement - gen_hetwt_rearrangement - Rearrangement - ?Rearrangement Heterozygous_with_wildtype (Multi-ontology)
  • Heteroallelic Rearrangement - gen_hetal_rearrangement - Rearrangement - ?Rearrangement Heteroallelic_combination (Multi-ontology)
  • Transgene (Unknown Zygosity) - gen_transgene - Transgene - ?Transgene (Multi-ontology)
  • Homozygous Transgene - gen_homo_transgene - Transgene - ?Transgene Homozygous (Multi-ontology)
  • Heterozygous (w/WT) Transgene - gen_hetwt_transgene - Transgene - ?Transgene Heterozygous_with_wildtype (Multi-ontology)
  • Heteroallelic Transgene - gen_hetal_transgene - Transgene - ?Transgene Heteroallelic_combination (Multi-ontology)
  • Other Component - gen_othercomp - Other_component - Big text
  • Species - gen_species - Species - ?Species (Dropdown)
  • Remark - gen_remark - Remark - Big text
  • Paper - gen_paper - Reference - ?Paper (Ontology)
  • NO DUMP - gen_nodump - NOT DUMPED - toggle