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MethylCal: Bayesian calibration of methylation levels.

Published version
Peer-reviewed

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Authors

Ochoa, Eguzkine 
Zuber, Verena 
Fernandez-Jimenez, Nora 
Bilbao, Jose Ramon 
Clark, Graeme R 

Abstract

Bisulfite amplicon sequencing has become the primary choice for single-base methylation quantification of multiple targets in parallel. The main limitation of this technology is a preferential amplification of an allele and strand in the PCR due to methylation state. This effect, known as 'PCR bias', causes inaccurate estimation of the methylation levels and calibration methods based on standard controls have been proposed to correct for it. Here, we present a Bayesian calibration tool, MethylCal, which can analyse jointly all CpGs within a CpG island (CGI) or a Differentially Methylated Region (DMR), avoiding 'one-at-a-time' CpG calibration. This enables more precise modeling of the methylation levels observed in the standard controls. It also provides accurate predictions of the methylation levels not considered in the controlled experiment, a feature that is paramount in the derivation of the corrected methylation degree. We tested the proposed method on eight independent assays (two CpG islands and six imprinting DMRs) and demonstrated its benefits, including the ability to detect outliers. We also evaluated MethylCal's calibration in two practical cases, a clinical diagnostic test on 18 patients potentially affected by Beckwith-Wiedemann syndrome, and 17 individuals with celiac disease. The calibration of the methylation levels obtained by MethylCal allows a clearer identification of patients undergoing loss or gain of methylation in borderline cases and could influence further clinical or treatment decisions.

Description

Keywords

Algorithms, Bayes Theorem, Beckwith-Wiedemann Syndrome, Calibration, Celiac Disease, Computational Biology, CpG Islands, DNA Methylation, Genomic Imprinting, Humans, Potassium Channels, Voltage-Gated, RNA, Long Noncoding, Reproducibility of Results, Sensitivity and Specificity, Sequence Analysis, DNA

Journal Title

Nucleic Acids Res

Conference Name

Journal ISSN

0305-1048
1362-4962

Volume Title

47

Publisher

Oxford University Press (OUP)
Sponsorship
Alan Turing Institute (unknown)
Wellcome Trust (204623/Z/16/Z)
Medical Research Council (MC_UU_00002/7)
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