Targeted long-read sequencing (T-LRS) identified candidate pathogenic variants in eight of nine individuals with Werner syndrome (BIA1010 and BIA1020 are siblings)
| Registry | Known variant (all heterozygous) | Additional workup | T-LRS result | Confirmation of T-LRS result |
| WV | RT-PCR: c.2773delG, p.A925fs | Western: no protein | c.3961C>T, p.R1321*, | PCR+Sanger |
| BIA1010 | Sanger: c.1105C>T, p.R369* | Western: no protein | c.3234-170A>G | RT-PCR |
| BIA1020 | Sanger: c.1105C>T, p.R369* | Western: no protein | c.3234-170A>G | RT-PCR |
| PD1010 | Exome sequencing: c.561A>G, p.K187* | Western: no protein | chr8:g.31135822_ 31 474 535delinsTCT | PCR+Sanger |
| CB4 | Sanger: c.3139-1G>C, p.G1047fs | Western: no protein SNP array: normal | c.1982-297A>G | RT-PCR |
| CB6 | Sanger: c.1105C>T, p.R369* | Western: no protein SNP array: normal | c.1982-297A>G | RT-PCR |
| FES | RT-PCR: c.1165delA, p.R389fs | Western: no protein | c.2103_2104delAC, p.Leu702fs | PCR+Sanger |
| SILV1010 | Sanger: c.2665C>T, p.R889* | Western: ~1% protein RT-PCR: skipping of exon 20 | No second variant found | n/a |
| EN1010 | Genome sequencing: c.2367_2368delAT, p.S790fs | None | c.839+1309T>G | Exon trap (figure 3) |
n/a, not available.