Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Table 3 Sequencing yield demonstrated high recovery rate for tandem repeats in the assay

		Yield from 3 SMRT cells
Sequencing yield	Total consensus reads	135,502
	Unmapped	1696	1.25%
	Within 1000 bases from targets	37,608	27.75%
	Intersecting tandem repeats	32,778	24.19%
	Spanning tandem repeats	29,024	21.42%
	Useful reads (spanning tandem repeats with 20 nt flanks)	26,855	19.82%
Useful reads per target	Average	10.2 - 22.8
	Median	10–23
	Maximum	63–166
Sequenced targets	Total repeats	88.4% - 93.3%
	‘Functional’ repeats	75.6% - 85.9%
	‘Non-functional’ repeats	99.0% - 99.6%

ISSN: 1755-8794