Medical implications of technical accuracy in genome sequencing

Table 4 Genomic context of ClinVar (likely) pathogenic SNVs

	n	%
Total likely pathogenic or pathogenic SNVs	15,735
Likely pathogenic or pathogenic SNVs in high-confidence regions	12,138	77.14
Likely pathogenic or pathogenic SNVs that start a 35 bp unique sequence^a	15,289	97.17
Likely pathogenic or pathogenic SNVs that start a 100 bp alignable sequence^b	15,438	98.11
Total likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status [32]	1,212
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status in high-confidence regions	998	82.34
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status that start a 35 bp unique sequence^a	1,190	98.18
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status that start a 100 bp alignable sequence^b	1,195	98.60

^aThe 35 bp sequence that starts at the SNV’s genomic loci is only present once in the whole reference genome (hg19)
^bThe 100 bp sequence (with up to two mismatches) that starts at the SNV’s genomic loci is only present once in the whole reference genome (hg19)

ISSN: 1756-994X