Skip to main content
construction release_alert
Scholars@Duke will be undergoing maintenance April 11-15. Some features may be unavailable during this time.
cancel

High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot.

Publication ,  Journal Article
Aberg, KA; Xie, LY; Nerella, S; Copeland, WE; Costello, EJ; van den Oord, EJCG
Published in: Epigenetics
May 2013

The potential importance of DNA methylation in the etiology of complex diseases has led to interest in the development of methylome-wide association studies (MWAS) aimed at interrogating all methylation sites in the human genome. When using blood as biomaterial for a MWAS the DNA is typically extracted directly from fresh or frozen whole blood that was collected via venous puncture. However, DNA extracted from dry blood spots may also be an alternative starting material. In the present study, we apply a methyl-CpG binding domain (MBD) protein enrichment-based technique in combination with next generation sequencing (MBD-seq) to assess the methylation status of the ~27 million CpGs in the human autosomal reference genome. We investigate eight methylomes using DNA from blood spots. This data are compared with 1,500 methylomes previously assayed with the same MBD-seq approach using DNA from whole blood. When investigating the sequence quality and the enrichment profile across biological features, we find that DNA extracted from blood spots gives comparable results with DNA extracted from whole blood. Only if the amount of starting material is ≤ 0.5µg DNA we observe a slight decrease in the assay performance. In conclusion, we show that high quality methylome-wide investigations using MBD-seq can be conducted in DNA extracted from archived dry blood spots without sacrificing quality and without bias in enrichment profile as long as the amount of starting material is sufficient. In general, the amount of DNA extracted from a single blood spot is sufficient for methylome-wide investigations with the MBD-seq approach.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Epigenetics

DOI

EISSN

1559-2308

Publication Date

May 2013

Volume

8

Issue

5

Start / End Page

542 / 547

Location

United States

Related Subject Headings

  • Humans
  • High-Throughput Nucleotide Sequencing
  • Dried Blood Spot Testing
  • Developmental Biology
  • DNA Methylation
  • DNA
  • CpG Islands
  • Blood Banks
  • 3105 Genetics
  • 3101 Biochemistry and cell biology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Aberg, K. A., Xie, L. Y., Nerella, S., Copeland, W. E., Costello, E. J., & van den Oord, E. J. C. G. (2013). High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot. Epigenetics, 8(5), 542–547. https://doi.org/10.4161/epi.24508
Aberg, Karolina A., Lin Y. Xie, Srilaxmi Nerella, William E. Copeland, E Jane Costello, and Edwin J. C. G. van den Oord. “High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot.Epigenetics 8, no. 5 (May 2013): 542–47. https://doi.org/10.4161/epi.24508.
Aberg KA, Xie LY, Nerella S, Copeland WE, Costello EJ, van den Oord EJCG. High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot. Epigenetics. 2013 May;8(5):542–7.
Aberg, Karolina A., et al. “High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot.Epigenetics, vol. 8, no. 5, May 2013, pp. 542–47. Pubmed, doi:10.4161/epi.24508.
Aberg KA, Xie LY, Nerella S, Copeland WE, Costello EJ, van den Oord EJCG. High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot. Epigenetics. 2013 May;8(5):542–547.

Published In

Epigenetics

DOI

EISSN

1559-2308

Publication Date

May 2013

Volume

8

Issue

5

Start / End Page

542 / 547

Location

United States

Related Subject Headings

  • Humans
  • High-Throughput Nucleotide Sequencing
  • Dried Blood Spot Testing
  • Developmental Biology
  • DNA Methylation
  • DNA
  • CpG Islands
  • Blood Banks
  • 3105 Genetics
  • 3101 Biochemistry and cell biology