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Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification |
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| Authors: | Dedeepya Vaka Eunice Wan Richard Lao Flavia Chen Mark Kvale Robert J Currier Jennifer M Puck Pui‐Yan Kwok |
| Institution: | 1. Institute for Human Genetics, University of California, San Francisco, California;2. Genetic Disease Screening Program, California Department of Public Health, Richmond, California;3. Department of Pediatrics, University of California, San Francisco, California;4. Cardiovascular Research Institute, University of California, San Francisco, California;5. Department of Dermatology, University of California, San Francisco, California |
| Abstract: | 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. |
| Keywords: | dried blood spot DNA preparation newborn screening WES whole exome sequencing WGS whole genome sequencing |