Abstract
BackgroundDried 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.MethodsThis study compares the WGS performance of DBS paired with venous blood samples collected from 12 subjects.ResultsResults 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.ConclusionDBS samples can serve as a robust and feasible alternative to venous blood for studies requiring WGS analysis.
Highlights
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
Given that DBS is inexpensive, scalable, easy to handle in the field and does not require a trained professional for collection [7, 8], we evaluated whether this sample type is suitable for whole-genome sequencing (WGS) studies
Our results indicate that Single nucleotide variant (SNV)/insertions and deletions (InDels) concordance is high between DBS and blood, and telomere length estimates are similar between the two sample types
Summary
Comparison of genomic DNA quality We extracted genomic DNA (gDNA) from paired DBS and blood samples from 12 subjects. Downstream analysis of WGS data WGS data have been used in more complex analyses such as (a) haplotyping for ancestry determination, (b) estimating mitochondrial heteroplasmy in a population to understand inheritance of rare mitochondrial disorders, (c) estimating mitochondrial copy numbers, and (d) estimating telomere length as surrogate biomarkers for aging or age-related disorders For these analyses, assessing whether WGS data from DBS would match the data obtained from blood is critical. Haplogroup assignment Both DBS and blood samples paired into individual clades, indicating a high concordance of mtSNVs between the two matrices (Additional file 2: Figure S2). Our results show that measurements of telomere length from DBS will yield similar results to those from blood
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