CaseControlAlleleFrequencyStatement

A statement describing allele frequencies identified in a particular study group as a function of case-control status (i.e frequency in affected vs unaffected study groups)

SEPIO:0000242
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
canonicalAllele CanonicalAllele 1..1 The allele studied in the case-control experiment SEPIO:0000275 CaseControlAlleleFrequencyStatement
condition GeneticCondition 1..1 The condition studied in the case-control experiment SEPIO:0000276 CaseControlAlleleFrequencyStatement
caseGroupFrequency AlleleFrequency 0..1 The group of individuals with the condition SEPIO:0000304 CaseControlAlleleFrequencyStatement
controlGroupFrequency AlleleFrequency 0..1 The group of individuals without the condition SEPIO:0000305 CaseControlAlleleFrequencyStatement
oddsRatio number 0..1 Ratio of the probability of having the condition given the allele to the probability of the condition without the allele. SEPIO:0000309 CaseControlAlleleFrequencyStatement
confidenceLevel number 0..1 Confidence level in percent SEPIO:0000308 CaseControlAlleleFrequencyStatement
confidenceIntervalLower number 0..1 Lower bound of the confidence interval for the odds ratio SEPIO:0000306 CaseControlAlleleFrequencyStatement
confidenceIntervalUpper number 0..1 Upper bound of the confidence interval for the odds ratio SEPIO:0000307 CaseControlAlleleFrequencyStatement
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 caseGroupFrequency controlGroupFrequency oddsRatio confidenceLevel confidenceIntervalLower confidenceIntervalUpper

CGEX:CaseCtrl030

Treating ExAC data as controls

CAR:CA253316

CGEX:GenCond048

CGEX:AllFreq029

CGEX:AllFreq028

9.1361

99.0

6.1425

13.5889

CGEX:CaseCtrl036

Odds ratio is calculated by pooling samples from the six GENIUS T2D cohorts before calculation.

CAR:CA123287

CGEX:GenCond012

CGEX:AllFreq034

CGEX:AllFreq035

1.06

95.0

0.96

1.18

CGEX:CaseCtrl033

Did not calculate formal odds ratio

CAR:CA024311

CGEX:GenCond011

CGEX:AllFreq032

CGEX:AllFreq031