Table 1.
Seq. | Class | Related Attribute | Entity | ||
---|---|---|---|---|---|
Action | Collected Data | Tool/Processor | |||
1 | Sample Collection | Institution Identifier Subject Identifier Test Identifier (Order ID or Accession No) | Linkage Identifier to Clinical Information | ||
Submission Date | Timeline Information | ||||
Medical Institution | Actor Information | ||||
Clinician | |||||
2 | Specimen | ||||
3 | Machine Sequencing | Test Description | Experiment Related Information | ||
Type of Sequence | |||||
Platform technology | |||||
Sequencer | |||||
Collection Date | Timeline Information | ||||
Sequencing Institution | Actor Information | ||||
Experimenter | |||||
4 | Read File | ||||
5 | Alignment | Position Reference allele Alternative allele Chromosome | Physical(Location) information according to coordinate system | ||
Analytics Institution | Actor Information | ||||
Bioinformatician | |||||
6 | Initial Alignment File | ||||
7 | InDel Realignment | Position’ | Physical(Location) information according to coordinate system | ||
/ | Reference allele’ | ||||
Base Recalibration | Alternative allele’ | ||||
Chromosome’ | |||||
Base quality(>Q20) | Quality Check information | ||||
(Average) Depth of coverage | |||||
Mapping Quality (%Mapped reads) | |||||
Received Date | Timeline Information | ||||
Analytics Institution | Actor Information | ||||
Bioinformatician | |||||
8 | Adjusted Alignment File | ||||
9 | Variant Calling | Hetero-/Homozygosity | Genotype Expressions | ||
Phasing information | |||||
Missing | |||||
Analytics Institution | Actor Information | ||||
Bioinformatician | |||||
10 | Variant Caller | Tool | Pipeline information | ||
Step | |||||
Parameter | |||||
Origin | Data source | ||||
Version | |||||
Build | |||||
Parameter | |||||
11 | Variant File | ||||
12 | Sequence Annotation | Gene (HGNC Gene Symbol, Entrez ID, Ensembl ID) | Variant Descriptive Expressions | ||
Variant (HGVS(genomic, coding, protein change + version), dbSNP, dbVar) | |||||
Cytogenetic location | Physical(Location) information according to coordinate system | ||||
Codon | |||||
Exon | |||||
ClinVar, COSMIC ID | Functional Annotation | ||||
Molecular Effect | |||||
Variant Type | |||||
Functional Domain | |||||
Analytics Institution | Actor Information | ||||
Bioinformatician | |||||
13 | Annotator | Tool | Pipeline information | ||
Step | |||||
Parameter | |||||
Origin | Data source | ||||
Version | |||||
Build | |||||
14 | Annotated Variant File | ||||
15 | Clinical Annotation | ACMG actionable genes | Clinical Annotation | ||
FDA qualified biomarkers | |||||
User-defined biomarkers | |||||
Analytics Institution | Actor Information | ||||
Bioinformatician | |||||
Documentation Date | Timeline Information |
The processes in the clinico-genomic workflow shown in Fig. 2 are listed in order and associated with the classes, related attribute sets for each process. This table is an intermediate result between the result of FMEA and the final logical model. Derived related attributes are abstracted within each class and grouped into entities.