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Validation of whole genome sequencing from dried blood spots

Agrawal, P and Katragadda, S and Hariharan, AK and Raghavendrachar, VG and Agarwal, A and Dayalu, R and Awasthy, D and Sharma, SC and Sivasamy, YK and Lakshmana, P and Shanmugam, A and Veeramachaneni, V and Gupta, V and Vani, BP and Subaiya, L and Syamala, TS and Hariharan, R and Chandru, V and Bloom, DE (2021) Validation of whole genome sequencing from dried blood spots. In: BMC Medical Genomics, 14 (1).

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Official URL: https://doi.org/10.1186/s12920-021-00951-w


Background: 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. Methods: This study compares the WGS performance of DBS paired with venous blood samples collected from 12 subjects. Results: 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. Conclusion: DBS samples can serve as a robust and feasible alternative to venous blood for studies requiring WGS analysis. © 2021, The Author(s).

Item Type: Journal Article
Publication: BMC Medical Genomics
Publisher: BioMed Central Ltd
Additional Information: The copyright for this article belongs to Authors
Department/Centre: Division of Interdisciplinary Sciences > Centre for Biosystems Science and Engineering
Date Deposited: 12 Aug 2021 06:10
Last Modified: 12 Aug 2021 06:10
URI: http://eprints.iisc.ac.in/id/eprint/69083

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