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. 2020 Jan 29;10:1414. doi: 10.1038/s41598-020-58088-2

Table 1.

Extracted classes and related attribute sets from each step of clinico-genomic context for the Entity-Attribute model.

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.