Validation of whole genome sequencing from dried blood spots.

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,

SUBMITTER: Agrawal P 

PROVIDER: S-EPMC8056537 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature