Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India.
Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, 02115, USA.
BMC Med Genomics. 2021 Apr 20;14(1):110. doi: 10.1186/s12920-021-00951-w.
Dried blood spots (DBS) are a relatively inexpensive source of nucleic acids and are easy to collect, transport, and store in large-scale field surveys, especially in resource-limited settings. However, their performance in whole-genome sequencing (WGS) relative to that of venous blood DNA has not been analyzed for various downstream applications.
This study compares the WGS performance of DBS paired with venous blood samples collected from 12 subjects.
Results of standard quality checks of coverage, base quality, and mapping quality were found to be near identical between DBS and venous blood. Concordance for single-nucleotide variants, insertions and deletions, and copy number variants was high between these two sample types. Additionally, downstream analyses typical of population-based studies were performed, such as mitochondrial heteroplasmy detection, haplotype analysis, mitochondrial copy number changes, and determination of telomere lengths. The absolute mitochondrial copy number values were higher for DBS than for venous blood, though the trend in sample-to-sample variation was similar between DBS and blood. Telomere length estimates in most DBS samples were on par with those from venous blood.
DBS samples can serve as a robust and feasible alternative to venous blood for studies requiring WGS analysis.
干血斑（DBS）是一种相对廉价的核酸来源，易于在大规模现场调查中收集、运输和储存，特别是在资源有限的环境中。然而，对于各种下游应用，DBS 在全基因组测序（WGS）方面的性能与静脉血 DNA 相比尚未进行分析。
本研究比较了 12 名受试者的 DBS 与静脉血样本配对的 WGS 性能。
发现 DBS 和静脉血之间的覆盖范围、碱基质量和映射质量的标准质量检查结果几乎完全一致。两种样本类型之间的单核苷酸变异、插入和缺失以及拷贝数变异的一致性很高。此外，还进行了基于人群的研究中常见的下游分析，例如线粒体异质性检测、单倍型分析、线粒体拷贝数变化以及端粒长度的测定。DBS 的绝对线粒体拷贝数值高于静脉血，但 DBS 和血液之间的样本间变异趋势相似。大多数 DBS 样本的端粒长度估计与静脉血相当。
对于需要 WGS 分析的研究，DBS 样本可以作为静脉血的可靠且可行的替代物。
