AggregateCosegregationStatement

A statement describing the observed correlation between transmission of a particular allele and a particular genetic condition, across multiple family pedigrees (i.e. the co-segregation of an allele and a condition as observed across multiple family pedigrees).

SEPIO:0000248
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
canonicalAllele CanonicalAllele 1..1 Allele being tested for cosegregation SEPIO:0000275 AggregateCosegregationStatement
condition GeneticCondition 1..1 Condition being tested for cosegregation SEPIO:0000276 AggregateCosegregationStatement
totalNumberOfSegregations integer 0..1 Total number of segregations across families SEPIO:0000288 AggregateCosegregationStatement
familySegregation FamilySegregation 0..* List of FamilySegregrationData that have been aggregated SEPIO:0000287 AggregateCosegregationStatement
inheritancePatternParameter @id 0..1 Inheritance pattern used in evaluation of co-segregation SEPIO:0000423 AggregateCosegregationStatement
totalOfAllelePosConditionPosIndividuals integer 0..1 Number of individuals across families that have the allele and the condition SEPIO:0000292 AggregateCosegregationStatement
totalOfAlleleNegConditionNegIndividuals integer 0..1 Number of individuals across families that lack both the allele and the condition SEPIO:0000289 AggregateCosegregationStatement
totalOfAllelePosConditionNegIndividuals integer 0..1 Number of individuals across families that have the allele but not the condition SEPIO:0000291 AggregateCosegregationStatement
totalOfAlleleNegConditionPosIndividuals integer 0..1 Number of individuals across families that do not have the allele but do have the condition SEPIO:0000290 AggregateCosegregationStatement
totalOfUntestedConditionPosIndividuals integer 0..1 Number of individuals across families that have the condition but whose allele is untested SEPIO:0000295 AggregateCosegregationStatement
totalOfUntestedConditionNegIndividuals integer 0..1 Number of individuals across families that do not have the condition but whose allele is untested SEPIO:0000294 AggregateCosegregationStatement
totalOfFamiliesWithInconsistentSegregations integer 0..1 Number of families containing segregations that are inconsistent with the allele causing the condition SEPIO:0000293 AggregateCosegregationStatement
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity
userLabelDictionary UserLabel 0..* An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. SEPIO:0000422 Statement
outcomeQualifier string 0..1 Use “NOT” as the value of this property to assert that the statement is negated. SEPIO:0000346 Statement
evidenceLine EvidenceLine 0..* supporting evidence SEPIO:0000006 Statement
contribution Contribution 0..* The contributions (agent, time and role) made to this entity SEPIO:0000159 Statement
source string 0..* A string indicating the source of a Statement DC:source Statement

Instances

ID label description userLabelDictionary outcomeQualifier evidenceLine canonicalAllele condition totalNumberOfSegregations familySegregation inheritancePatternParameter totalOfAllelePosConditionPosIndividuals totalOfAlleleNegConditionNegIndividuals totalOfAllelePosConditionNegIndividuals totalOfAlleleNegConditionPosIndividuals totalOfUntestedConditionPosIndividuals totalOfUntestedConditionNegIndividuals totalOfFamiliesWithInconsistentSegregations

CGEX:AggSeg105

CAR:CA010136

CGEX:GenCond020

4

CGEX:FamSeg103

CGEX:FamSeg104

CGEX:AggSeg109

CAR:CA143213

CGEX:GenCond021

8

CGEX:FamSeg107

CGEX:FamSeg108

CGEX:AggSeg115

CAR:CA006429

CGEX:GenCond002

9

CGEX:FamSeg113

CGEX:FamSeg114