Skip to content
GitLab
Projects Groups Topics Snippets
  • /
  • Help
    • Help
    • Support
    • Community forum
    • Submit feedback
  • Sign in
  • A Actionability
  • Project information
    • Project information
    • Activity
    • Members
  • Wiki
    • Wiki
  • Activity
Collapse sidebar
  • ClinGenClinGen
  • Actionability
  • Wiki
  • Actionabilty APIs

Actionabilty APIs · Changes

Page history
Update Actionabilty APIs authored Mar 28, 2023 by Neethu Shah's avatar Neethu Shah
Hide whitespace changes
Inline Side-by-side
Actionabilty-APIs.md
View page @ 00aaedb0
......@@ -107,32 +107,60 @@ Summary of actionability APIs:
<span dir="">Includes gene-disease pairs that were part of reports that are “Released” or “Released – Under Revision.” To find these records go to Adult Summaries -> Overall Scores; exclude retracted rows. Use the same process to identify peds records by going to Pediatric Summaries -> Overall scores.</span>
* <span dir="">Exclude records with OMIM = “(No paired disease(s) for gene).”</span>
* <span dir=""> Use Gene OMIM and OMIM for the gene-disease pairs.</span>
* <span dir="">Use Gene OMIM and OMIM for the gene-disease pairs.</span>
* <span dir="">If the same gene-disease pair is listed in adults and peds reports, these should be counted as two separate gene-disease pairs.</span>
* <span dir=""> If the same gene-disease pair is listed records with different doc IDs, these should be counted separately.</span>
* <span dir="">If the same gene-disease pair is listed records with different doc IDs, these should be counted separately.</span>
* <span dir="">Remove all other duplicates.</span>
</td>
</tr>
<tr>
<td>
<span dir="">Total Actionability Assertions (by gene)</span>
</td>
<td>
**_CONTEXT specific_**
* [<span dir="">https://actionability.clinicalgenome.org/ac /Adult/ui/summ/assertion?searchType=allassertions</span>](https://actionability.clinicalgenome.org/ac)
* [<span dir="">https://actionability.clinicalgenome.org/ac /Pediatric/ui/summ/assertion?searchType=allassertions</span>](https://actionability.clinicalgenome.org/ac)
</td>
<td>
<span dir="">Sum of all assertions except “Assertion Pending.” The AK-Repo has separate adult and peds files, these should be combined in this section.</span>
<span dir="">To find these records go to Adult Summaries -> Consensus Assertions. Use the same process to identify peds records by going to Pediatric Summaries -> Overall scores.</span>
* <span dir="">Status-overall = Released only; Exclude records with Status-overall = Retracted</span>
* <span dir="">Consensus Assertion = Definitive, Strong, Moderate, Limited, N/A – Insufficient evidence: early rule-out, or N/A – Insufficient evidence: expert review</span>
* <span dir="">If the same gene-disease pair is listed in adults and peds reports, these should be counted as two separate gene-disease pairs</span>
* <span dir=""> If the same gene-disease pair is listed records with different doc IDs, these should be counted separately</span>
* <span dir="">Removing duplicates should be unnecessary</span>
</td>
</tr>
<tr>
<td>
<span dir="">Assertions Under Revision</span>
</td>
<td>
**_CONTEXT specific_**
* [<span dir="">https://actionability.clinicalgenome.org/ac Adult/ui/summ/assertion?searchType=assertionsUnderRevision</span>](https://actionability.clinicalgenome.org/ac)
* [<span dir="">https://actionability.clinicalgenome.org/ac/Pediatric/ui/summ/assertion?searchType=assertionsUnderRevision</span>](https://actionability.clinicalgenome.org/ac/Pediatric/ui/summ/assertion?searchType=assertionsUnderRevision)
</td>
<td>
<span dir="">“Assertion pending” assertions</span>
<span dir="">To find these records go to Adult Summaries -> Consensus Assertions. Use the same process to identify peds records by going to Pediatric Summaries -> Overall scores.</span>
* <span dir="">Status-overall = Released only; Exclude records with Status-overall = Retracted</span>
* <span dir="">Consensus Assertion = Assertion Pending</span>
* <span dir=""> If the same gene-disease pair is listed in adults and peds reports, these should be counted as two separate gene-disease pairs</span>
* <span dir="">If the same gene-disease pair is listed records with different doc IDs, these should be counted separately</span>
* <span dir="">Removing duplicates should be unnecessary</span>
</td>
</tr>
</table>
......
Clone repository
  • Actionabilty APIs
  • Chromosomal Abnormalities
  • Home