Table 3 Concordance of single nucleotide and insertion-deletion nucleotide variants (SNVs and indels) in WGS from 25 blood samples and 63 DBS derived from those samples.
From: Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Sample Type | Library preparation type | Number of WGS | Average WGS SNVs | WGS SNV concordance: DBS vs blood | Average WGS indels | WGS indel concordance: DBS vs blood |
|---|---|---|---|---|---|---|
Blood | KAPA | 48 | 3,122,510 | 510,152 | ||
Blood | Illumina | 24 | 3,109,958 | 507,375 | ||
FTA DBS | KAPA | 12 | 3,134,167 | 99.20% | 513,429 | 96.60% |
FTA DBS | Illumina | 16 | 3,103,061 | 99.30% | 507,910 | 96.90% |
PC DBS | KAPA | 26 | 3,113,230 | 99.20% | 498,174 | 96.00% |
PC DBS | Illumina | 8 | 3,143,100 | 99.30% | 505,628 | 97.00% |
