Utilization of archived neonatal dried blood spots for genome-wide genotyping

利用存档的新生儿干血片进行全基因组基因分型

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作者:Pagna Sok, Philip J Lupo, Melissa A Richard, Karen R Rabin, Erik A Ehli, Noah A Kallsen, Gareth E Davies, Michael E Scheurer, Austin L Brown

Conclusion

Blood spot DNA quality was lower in samples archived in uncontrolled storage environments and for samples archived for longer durations. Still, regardless of storage environment or duration, neonatal biobanks including the Michigan Neonatal Biobanks can provide access to large collections of spots with DNA quality acceptable for most genotyping studies.

Results

Both storage environment and duration were associated with sample genotyping call rates (p-values < 0.001). Sample call rates were associated with storage duration independent of storage environment (p-trend = 0.006 for DBS archived in an uncontrolled environment and p-trend = 0.002 in a controlled environment). However, 95% of the total sample had high genotyping quality with a call rate ≥ 95.0%, a standard threshold for acceptable sample quality in many genetic studies.

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