<p>Rare dataset unique calls.</p>

A putatively pathogenic dataset was generated by identifying CNVs in the ClinGen dosage and DECIPHER datasets with at least 80% overlap with previously identified pathogenic CNVs. A total of 8,543,334 CNV calls were generated. Filtering for rare variants yielded 36,631 CNVs, of which 9,922 (27.08%) encompassed at least one OMIM gene, 728 (1.99%) had at least 10% overlap with a DECIPHER region, and 1,136 (3.10%) encompassed at least one ClinGen dosage-sensitive gene.

CNV deletions were stratified into 1,833 Tier 1 deletions, 32 Tier 2 deletions, and 184 Tier 3 deletions. There were 82 CNVs identified in regions associated with neurodevelopmental disorders. Of the genes with either a ClinGen dosage sensitivity score or overlap with a DECIPHER region, 206 CNVs were deemed as putatively pathogenic.

We were able to detect a wide range of CNVs, highlighting the use of integrating CNV workflows into the analysis pipeline, and generated a data resource for medical genomics for the Canadian population encompassing the full spectrum of CNVs.</p></div>