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Related Experiment Video

Updated: Mar 2, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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Evaluation of whole genome amplified DNA to decrease material expenditure and increase quality.

Marie Bækvad-Hansen¹, Jonas Bybjerg-Grauholm¹, Jesper B Poulsen¹

¹Danish Centre for Neonatal Screening, Department of Congenital Diseases, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen S, Denmark.

Molecular Genetics and Metabolism Reports

|May 11, 2017

Summary

This summary is machine-generated.

Optimizing whole genome amplification of dried blood spot DNA is feasible by reducing input material and reaction volume without compromising array genotyping quality. This robust process yields reliable data suitable for genetic studies.

Keywords:

Array genotyping Dried blood spot samples Whole genome amplification

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Last Updated: Mar 2, 2026

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Published on: April 11, 2016

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Published on: September 20, 2016

Area of Science:

Genomics
Molecular Biology
Biotechnology

Background:

Dried blood spots (DBS) are a valuable source for DNA extraction but require amplification for downstream applications.
Whole genome amplification (WGA) is often necessary for low-input DNA samples like those from DBS.
Optimizing WGA protocols is crucial for cost-effectiveness and data quality in genetic studies.

Purpose of the Study:

To evaluate whole genome amplification (WGA) of DNA from dried blood spot samples.
To optimize WGA by reducing input material, reaction volume, replicates, time, and temperature.
To enhance the quality of amplified DNA for array genotyping.

Main Methods:

DNA extracted from dried blood spots was whole genome amplified using the REPLIg kit.
Genotyping was performed on the PsychArray BeadChip (>570,000 SNPs).
Data quality was assessed using call rates and log R ratios in Genome Studio.

Main Results:

WGA process is robust and consistent across replicates.
Reducing input material (spot size) and reaction volume (by 4x) did not compromise array genotyping data quality.
Amplification time, temperature, and number of replicates did not significantly affect results.

Conclusions:

WGA of DBS DNA is suitable for robust and reliable array genotyping.
Optimization by reducing input material and reaction volume decreases cost without sacrificing data quality.
While robust, WGA introduces noise, potentially hindering detection of structural variants like copy number variants.