Entity DNA Sequence / Sequence Variation

DescriptionAn association between a study subject, a sequence variation, an assay, and a patient.
It identifies the set and value of polymorphisms that are associated with an Assay (and subject or non-subject).
The entity holds the details of the two alleles and their Copy Number Variations, if present in the patient enrolled in a study or a patient who desires to get the genetic profile.
Copy number variations (CNVs) are amplifications or deletions of longer stretches of DNA. Together with SNPs, they are responsible for a substantial amount of human phenotypic variability and disease susceptibility.

Attributes
Assay SkAssay Sk
Effective From DtEffective From Dt
Effective To DtEffective To Dt
Load Info SkLoad Info Sk
Patient SkPatient Sk
Relationship Type Code SkRelationship Type Code Sk
Sequence SkSequence Sk
Sequence Variation SkSequence Variation Sk
Source Code SkSource Code Sk
Study Subject SkStudy Subject Sk
Tenant SkTenant Sk
Valid From TsValid From Ts
Valid To TsValid To Ts

Relationship
Subject non-subject Sequence / Sequence Variation_Study Subject_FKSubject non-subject Sequence / Sequence Variation_Study Subject_FK
DNA Sequence / Sequence Variation_Sequence Variation_FKDNA Sequence / Sequence Variation_Sequence Variation_FK
DNA Sequence / Sequence Variation_Assay_FKDNA Sequence / Sequence Variation_Assay_FK
DNA Sequence / Sequence Variation_Patient_FKDNA Sequence / Sequence Variation_Patient_FK

Primary Key
DNA Sequence / Sequence Variation PKDNA Sequence / Sequence Variation PK

Dependencies
 

Reverse Dependencies
 

Attribute Details

 Assay Sk
DescriptionThe surrogate key for anchor Assay.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Effective From Dt
DescriptionEstablishes a period where a set of attributes are true according to the business.
Data TypeStandards - Data Domains.ddm/Data Domains/Date [DATE]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Effective To Dt
DescriptionEnds a period of effectivity.
Data TypeStandards - Data Domains.ddm/Data Domains/Date [DATE]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Load Info Sk
DescriptionThe surrogate key of the load information entry describing the details regarding the loading of the row.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Patient Sk
DescriptionAnchor surrogate key for the Patient data.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Relationship Type Code Sk
DescriptionIdentifies the type of the relationship as defined in the business data model.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Sequence Sk
DescriptionThe surrogate key for anchor DNA Sample.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeytrue
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Sequence Variation Sk
DescriptionThe surrogate key for anchor Sequence Variation.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Source Code Sk
DescriptionThe origin of the data identifying the actual load source, vendor, manual key entry, or context of the data in a specific row in the database.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Study Subject Sk
DescriptionSurrogate key for the anchor entity.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key Large [LONG]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Tenant Sk
DescriptionThe surrogate key of the entry identifying the legal owner of the data.
Data TypeStandards - Data Domains.ddm/Data Domains/Surrogate Key [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Valid From Ts
DescriptionEstablishes a period where a set of attributes are true in the source system. This would be populated with the transaction timestamp and would be used for the snapshot date.
Data TypeStandards - Data Domains.ddm/Data Domains/Timestamp [TIMESTAMP]
Is Part Of PrimaryKeytrue
Is Requiredtrue
Is Derivedfalse
Is Surrogate Keyfalse



 Valid To Ts
DescriptionEnds a period of validity.
Data TypeStandards - Data Domains.ddm/Data Domains/Timestamp [TIMESTAMP]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse

Relationship Details

 Subject non-subject Sequence / Sequence Variation_Study Subject_FK
Is Identifying Relationshipfalse
Child TableDNA Sequence / Sequence Variation
Child MultiplicityZERO_TO_MANY
Child Referential Integrity: On DeleteNONE
Child Referential Integrity: On InsertNONE
Child Referential Integrity: On UpdateNONE
Parent TableStudy Subject
Parent MultiplicityZERO_TO_ONE
Parent Referential Integrity: On DeleteNONE
Parent Referential Integrity: On InsertNONE
Parent Referential Integrity: On UpdateNONE



 DNA Sequence / Sequence Variation_Sequence Variation_FK
Is Identifying Relationshipfalse
Child TableDNA Sequence / Sequence Variation
Child MultiplicityZERO_TO_MANY
Child Referential Integrity: On DeleteNONE
Child Referential Integrity: On InsertNONE
Child Referential Integrity: On UpdateNONE
Parent TableSequence Variation
Parent MultiplicityONE
Parent Referential Integrity: On DeleteNONE
Parent Referential Integrity: On InsertNONE
Parent Referential Integrity: On UpdateNONE



 DNA Sequence / Sequence Variation_Assay_FK
Is Identifying Relationshipfalse
Child TableDNA Sequence / Sequence Variation
Child MultiplicityZERO_TO_MANY
Child Referential Integrity: On DeleteNONE
Child Referential Integrity: On InsertNONE
Child Referential Integrity: On UpdateNONE
Parent TableAssay
Parent MultiplicityONE
Parent Referential Integrity: On DeleteNONE
Parent Referential Integrity: On InsertNONE
Parent Referential Integrity: On UpdateNONE



 DNA Sequence / Sequence Variation_Patient_FK
Is Identifying Relationshipfalse
Child TableDNA Sequence / Sequence Variation
Child MultiplicityZERO_TO_MANY
Child Referential Integrity: On DeleteNONE
Child Referential Integrity: On InsertNONE
Child Referential Integrity: On UpdateNONE
Parent TablePatient
Parent MultiplicityZERO_TO_ONE
Parent Referential Integrity: On DeleteNONE
Parent Referential Integrity: On InsertNONE
Parent Referential Integrity: On UpdateNONE

Primary Key Details

 DNA Sequence / Sequence Variation PK
Key AttributeSequence Sk
Key AttributeValid From Ts