Cardiovascular Research Institute, University of California, San Francisco, California.
Department of Pediatrics, University of California, San Francisco, California.
Hum Mutat. 2018 Jan;39(1):167-171. doi: 10.1002/humu.23356. Epub 2017 Nov 6.
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.
美国所有 50 个州都对罕见病进行新生儿筛查（NBS）。我们与加利福尼亚州公共卫生部遗传疾病实验室合作，以确定是否可以从存档的干血斑（DBS）中提取足够的 DNA 进行下一代测序，希望下一代测序可以在 NBS 中发挥作用。我们优化了针对 20 多年前存档的剩余婴儿 DBS 的 DNA 提取和测序文库制备方案，并成功获得了可接受的全外显子组和全基因组测序数据。这项使用 DBS DNA 进行的测序研究无需在测序文库制备前进行全基因组扩增，为妥善储存的剩余新生儿 DBS 是遗传研究满意的 DNA 来源提供了证据。
