... | @@ -85,7 +85,7 @@ Summary of actionability APIs: |
... | @@ -85,7 +85,7 @@ Summary of actionability APIs: |
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<span dir="">Of the “Total Actionability Reports (passed early rule-out)” records, filter on records that have:</span>
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<span dir="">Of the “Total Actionability Reports (passed early rule-out)” records, filter on records that have:</span>
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* <span dir=""> Status = “Released” or “Released – Under Revision”</span>
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* <span dir="">Status = “Released” or “Released – Under Revision”</span>
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* <span dir="">Release number of 2 or greater (exclude release numbers of 1.0.0-1.9.9).</span>
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* <span dir="">Release number of 2 or greater (exclude release numbers of 1.0.0-1.9.9).</span>
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* <span dir="">If there is a report for adults and peds, this should be counted as two reports</span>
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* <span dir="">If there is a report for adults and peds, this should be counted as two reports</span>
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... | @@ -93,6 +93,29 @@ Summary of actionability APIs: |
... | @@ -93,6 +93,29 @@ Summary of actionability APIs: |
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<span dir="">Total Gene-Disease Pairs</span>
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**_CONTEXT specific_**
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* [<span dir="">https://actionability.clinicalgenome.org/ac/Pediatric/ui/summ/assertion?searchType=allgdpairs</span>](https://actionability.clinicalgenome.org/ac/Pediatric/ui/summ/assertion?searchType=allgdpairs)
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* <span dir=""> </span>[<span dir="">https://actionability.clinicalgenome.org/ac/Adult/ui/summ/assertion?searchType=allgdpairs</span>](https://actionability.clinicalgenome.org/ac/Adult/ui/summ/assertion?searchType=allgdpairs)
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<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>
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* <span dir="">Exclude records with OMIM = “(No paired disease(s) for gene).”</span>
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* <span dir=""> Use Gene OMIM and OMIM for the gene-disease pairs.</span>
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* <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>
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* <span dir=""> If the same gene-disease pair is listed records with different doc IDs, these should be counted separately.</span>
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* <span dir="">Remove all other duplicates.</span>
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