IndividualGenotypeStatement

A statement about the allelic state of one or more alleles in the genome of an individual (e.g. zygosity information, or phase relative to a second allele).

SEPIO:0000245
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
individual @id 0..1 Person whose alleles the data represents SEPIO:0000280 IndividualGenotypeStatement
genotype Genotype 1..* Genotype the individual has SEPIO:0000425 IndividualGenotypeStatement
statementOutcome @id 1..1 SEPIO:0000197 IndividualGenotypeStatement
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 individual genotype statementOutcome

CGEX:IndGeno058

Father was het for c.9449delG variant and negative for c.7468_7488del variant. Mother was het for c.7468_7488del variant and negative for c.9449delG variant. Thus, variants are in trans in this proband.

CGEX:Indiv336

(individual #004)

CGEX:Geno378

CGEX:IndGeno062

Based on the NGS data, we are able to determine that c.298G>A and c.411+1G>A are in trans as no NGS reads carry both variants.

CGEX:Indiv337

(individual #005)

CGEX:Geno381

CGEX:IndGeno065

CGEX:Indiv338

(individual #006)

CGEX:Geno383

CGEX:IndGeno172

CGEX:Indiv345

(individual #013)

CGEX:Geno385

CGEX:IndGeno173

CGEX:Indiv346

(individual #014)

CGEX:Geno387

CGEX:IndGeno178

CGEX:Indiv347

(individual #015)

CGEX:Geno389

CGEX:IndGeno179

CGEX:Indiv348

(individual #016)

CGEX:Geno391

CGEX:IndGeno180

CGEX:Indiv349

(individual #017)

CGEX:Geno393

CGEX:IndGeno181

CGEX:Indiv350

(individual #018)

CGEX:Geno395

CGEX:IndGeno188

CGEX:Indiv351

(individual #019)

CGEX:Geno397

CGEX:IndGeno189

CGEX:Indiv352

(individual #020)

CGEX:Geno399

CGEX:IndGeno206

CGEX:Indiv353

(individual #021)

CGEX:Geno401

CGEX:IndGeno207

CGEX:Indiv354

(individual #022)

CGEX:Geno403

CGEX:IndGeno211

CGEX:Indiv355

(individual #023)

CGEX:Geno405

CGEX:IndGeno214

CGEX:Indiv356

(individual #024)

CGEX:Geno408

CGEX:IndGeno241

CGEX:Indiv357

(individual #025)

CGEX:Geno410

CGEX:Geno412

CGEX:IndGeno244

CGEX:Indiv358

(individual #026)

CGEX:Geno414

CGEX:Geno417

CGEX:IndGeno249

CGEX:Indiv359

(individual #027)

CGEX:Geno419

CGEX:Geno421

CGEX:IndGeno253

CGEX:Indiv360

(individual #028)

CGEX:Geno423

CGEX:Geno425

CGEX:IndGeno366

CGEX:Indiv361

(individual #029)

CGEX:Geno428

CGEX:Geno431