SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Table 2 Summary of curated collection of deleterious SVs

	Deletions	Duplications	Inversions	Insertions	Translocations	*Total*
Multiple genes	7	2	4	N/A	5	18
Multiple exons	37	19	5	N/A	N/A	61
Single exon	81	16	2	3	N/A	102
Promoter	5	0	0	0	0	5
Intronic	2	0	0	0	N/A	2
*Total*	132	37	11	3	5	188

We curated a collection of 188 published deleterious SVs based on 182 cases published in 146 clinical case reports. We considered five classes of SVs commonly present in LRS variant calling results: deletions, duplications, inversions, insertions, and translocations. We further classified the SVs into five functional categories based on the number of affected genes and the relative location of the SV region with respect to transcripts of genes. The case reports are available for download

ISSN: 1756-994X