Table 3 Questions to validate the conceptual schemes and results
ID | Question | Results | ||
|---|---|---|---|---|
CSHG | CSCG | CSG | ||
Structural view | ||||
1 | In which chromosome is the variation located? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
2 | What is the position of the variation in the GRCh37 assembly? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
3 | What is the position of the variation in the GRCh38 assembly? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
Percentages of correct answers | 1 | 0.66 | 1 | |
Transcription view | ||||
4 | What gene is affected by the variation? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
5 | what are the exons of the affected gene? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
6 | what are the introns of the affected gene? | \(\times\) | \(\checkmark\) | \(\checkmark\) |
7 | what are the regulatory elements of the affected gene? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
8 | What proteins are affected by the variation? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
9 | What domains compose the affected protein? | \(\times\) | \(\checkmark\) | \(\checkmark\) |
10 | What is the coding sequence of the affected transcript? | \(\times\) | \(\checkmark\) | \(\checkmark\) |
11 | What is the sequence of the untranslated regions of the affected mRNA? | \(\times\) | \(\checkmark\) | \(\checkmark\) |
Percentages of correct answers | 0.5 | 0.875 | 1 | |
Variation view | ||||
12 | What is the type of the variation? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
13 | What are the alleles of the variation? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\) |
14 | What is the allele frequency of the variation in the European population? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
15 | What is the allele frequency of the variation in the individual under study? | \(\times\) | \(\checkmark\) | \(\checkmark\) |
Percentages of correct answers | 0.75 | 0.75 | 1 | |
Pathway view | ||||
16 | What pathway is regulated by the affected protein? | \(\checkmark\) | \(\checkmark\) | \(\checkmark\)y |
17 | What specific process of the pathway is affected by the variation? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
18 | What are the inputs and outputs of the affected process? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
Percentages of correct answers | 1 | 0.33 | 1 | |
Bibliography and Data Bank view | ||||
19 | What are the external references of the variation | \(\checkmark\) | \(\times\) | \(\checkmark\) |
20 | What is the bibliography regarding the affected gene? | \(\checkmark\) | \(\times\) | \(\checkmark\) |
Percentages of correct answers | 1 | 0 | 1 | |
Global percentages of correct answers | 0.75 | 0.7 | 1 | |