Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification

Bassaganyas, L; Freedman, G; Vaka, D; Wan, E; Lao, R; Chen, F; Kvale, M; Currier, RJ; Puck, JM; Kwok, PY

Kwok, PY (reprint author), Univ Calif San Francisco, 555 Mission Bay Blvd South,MC 3118, San Francisco, CA 94143 USA.

HUMAN MUTATION, 2018; 39 (1): 167


Newborn screening (NBS) for rare conditions is performed in all 50 states in the USA. We have partnered with the California Department of Public Health Genetic Disease Laboratory to determine whether sufficient DNA can be extracted from archived dried blood spots (DBS) for next-generation sequencing in the hopes that next-generation sequencing can play a role in NBS. We optimized the DNA extraction and sequencing library preparation protocols for residual infant DBS archived over 20 years ago and successfully obtained acceptable whole exome and whole genome sequencing data. This sequencing study using DBS DNA without whole genome amplification prior to sequencing library preparation provides evidence that properly stored residual newborn DBS are a satisfactory source of DNA for genetic studies.

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