Archived neonatal dried blood spot samples for accurate whole genome sequencing

Posted by & filed under Exome sequencing, Newborn screening, Part 06: DIAGNOSTIC APPROACHES.

Hollegaard et al. have demonstrated in the past that DNA extracted from a fraction (2 × 3.2 mm discs) of an archived Dried blood spot sample (DBSS) can be whole genome amplified (wgaDNA) and used for accurate array genotyping. In this study, they compared whole-blood DNA next-generation sequencing (NGS) results to results from DBSS and concluded that DBSS can be used for NGS. The overall performance of the archived DBSS was reported to be similar to the whole blood reference sample. According to Hollegaard et al. two 3.2 mm disks from a DBSS is sufficient for WGA, and subsequently Whole Exome/Genome Sequencing.

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing. Hollegaard et al. Mol Genet Metab. 2013 Jun 13. PMID: 23830478

Posted by Yannis Trakadis, MD

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