Validation of whole genome sequencing from dried blood spots.

Autor:	Agrawal P; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Katragadda S; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Hariharan AK; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Raghavendrachar VG; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Agarwal A; Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, 02115, USA., Dayalu R; Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, 02115, USA., Awasthy D; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Sharma SC; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Sivasamy YK; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Lakshmana P; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Shanmugam A; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Veeramachaneni V; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Gupta V; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Vani BP; The Institute for Social and Economic Change, Dr. VKRV Rao Road, Teachers Colony, Nagarabhavi, Bangalore, Karnataka, 560072, India., Subaiya L; The Institute for Social and Economic Change, Dr. VKRV Rao Road, Teachers Colony, Nagarabhavi, Bangalore, Karnataka, 560072, India., Syamala TS; The Institute for Social and Economic Change, Dr. VKRV Rao Road, Teachers Colony, Nagarabhavi, Bangalore, Karnataka, 560072, India., Hariharan R; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India., Chandru V; Strand Life Sciences Pvt. Ltd., Ground Floor, UAS Alumni Association Building, Veterinary College Campus, Bellary Road, Bangalore, Karnataka, 560024, India. chandru@strandls.com.; Centre for BioSystems Science and Engineering, 3rd Floor, C Wing, Biological Sciences Building, Indian Institute of Science, Bangalore, 560012, India. chandru@strandls.com., Bloom DE; Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, 02115, USA. dbloom@hsph.harvard.edu.
Jazyk:	angličtina
Zdroj:	BMC medical genomics [BMC Med Genomics] 2021 Apr 20; Vol. 14 (1), pp. 110. Date of Electronic Publication: 2021 Apr 20.
DOI:	10.1186/s12920-021-00951-w
Abstrakt:	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.
Databáze:	MEDLINE
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