Validation of Whole Genome Sequencing from Dried Blood Spots

Overview

Journal BMC Med Genomics

Publisher Biomed Central

Specialty Genetics

Date 2021 Apr 21

PMID 33879142

Citations 4

Authors

Pooja Agrawal

Shanmukh Katragadda

Arun K Hariharan

Vijayashree Gauribidanur Raghavendrachar

Arunika Agarwal

Rashmi Dayalu

Disha Awasthy

Sanjay C Sharma

Yasodha Kannan Sivasamy

P Lakshmana

Ashwini Shanmugam

Vamsi Veeramachaneni

Vaijayanti Gupta

B P Vani

Lekha Subaiya

T S Syamala

Ramesh Hariharan

Vijay Chandru

David E Bloom

Affiliations

Soon will be listed here.

Abstract

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.

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