IndividualAlleleInheritanceStatement

A statement about the origin of a particular allele in an individual - i.e. whether it occurred de novo in the individual as a result of a spontaneous mutation event, or whether it was inherited from a parent.

SEPIO:0000240
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
canonicalAllele CanonicalAllele 0..1 The allele whose denovo status is being described SEPIO:0000275 IndividualAlleleInheritanceStatement
individual @id 0..1 The individual whose allele may be denovo SEPIO:0000280 IndividualAlleleInheritanceStatement
statementOutcome @id 1..* Source of an allele in an individual SEPIO:0000197 IndividualAlleleInheritanceStatement
parentalConfirmation @id 0..1 Whether or not the parent-child relationship was independently confirmed SEPIO:0000167 IndividualAlleleInheritanceStatement
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 individual statementOutcome parentalConfirmation

CGEX:IndAllInh014

parentage confirmed via haplotyping.

CAR:CA016441

CGEX:Indiv333

(individual #001)

GENO:0000880

(de novo)

SEPIO-CG:99007

(maternal and paternal confirmation)

CGEX:IndAllInh017

Non-paternity was excluded by assessment with microsatellites

CAR:CA257646

CGEX:Indiv334

(individual #002)

GENO:0000880

(de novo)

SEPIO-CG:99006

(paternal confirmation)

CGEX:IndAllInh020

Variant from trio WES, which confirmed parentage

CAR:CA354186

CGEX:Indiv335

(individual #003)

GENO:0000880

(de novo)

SEPIO-CG:99007

(maternal and paternal confirmation)

CGEX:IndAllInh087

parentage confirmation not mentioned in the source article

CAR:CA090951

CGEX:Indiv339

(individual #007)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh088

parentage confirmation not mentioned in the source article

CAR:CA090951

CGEX:Indiv340

(individual #008)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh091

parentage confirmation not mentioned in the source article

CAR:CA279966

CGEX:Indiv341

(individual #009)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh094

CAR:CA279976

CGEX:Indiv342

(individual #010)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh097

CAR:CA279976

CGEX:Indiv343

(individual #011)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh100

CAR:CA279976

CGEX:Indiv344

(individual #012)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)

CGEX:IndAllInh106

CAR:CA280055

CGEX:Indiv362

(individual #030)

GENO:0000880

(de novo)

SEPIO-CG:99008

(no parental confirmation)