Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing

The overall performance of the archived DBSS was similar to the whole blood reference sample. Plotting the error rates relative to coverage revealed that the error rates of DBSS were similar to that of their reference samples. SNVs called with a coverage < × 8 had error rates between 1.5 and 35%, whereas the error rates of SNVs called with a coverage ≥ 8 were < 1.5%. In conclusion, the wgaDNA amplified from both new and old neonatal DBSS perform as well as their whole-blood reference samples with regards to error rates, strongly indicating that neonatal DBSS collected shortly after birth and stored for decades comprise an excellent resource for NGS studies of disease.