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The SEQC2 epigenomics quality control (EpiQC) study

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Item Type:Article
Title:The SEQC2 epigenomics quality control (EpiQC) study
Creators Name:Foox, J. and Nordlund, J. and Lalancette, C. and Gong, T. and Lacey, M. and Lent, S. and Langhorst, B.W. and Ponnaluri, V.K.C. and Williams, L. and Padmanabhan, K.R. and Cavalcante, R. and Lundmark, A. and Butler, D. and Mozsary, C. and Gurvitch, J. and Greally, J.M. and Suzuki, M. and Menor, M. and Nasu, M. and Alonso, A. and Sheridan, C. and Scherer, A. and Bruinsma, S. and Golda, G. and Muszynska, A. and Łabaj, P.P. and Campbell, M.A. and Wos, F. and Raine, A. and Liljedahl, U. and Axelsson, T. and Wang, C. and Chen, Z. and Yang, Z. and Li, J. and Yang, X. and Wang, H. and Melnick, A. and Guo, S. and Blume, A. and Franke, V. and Ibanez de Caceres, I. and Rodriguez-Antolin, C. and Rosas, R. and Davis, J.W. and Ishii, J. and Megherbi, D.B. and Xiao, W. and Liao, W. and Xu, J. and Hong, H. and Ning, B. and Tong, W. and Akalin, A. and Wang, Y. and Deng, Y. and Mason, C.E.
Abstract:BACKGROUND: Cytosine modifications in DNA such as 5-methylcytosine (5mC) underlie a broad range of developmental processes, maintain cellular lineage specification, and can define or stratify types of cancer and other diseases. However, the wide variety of approaches available to interrogate these modifications has created a need for harmonized materials, methods, and rigorous benchmarking to improve genome-wide methylome sequencing applications in clinical and basic research. Here, we present a multi-platform assessment and cross-validated resource for epigenetics research from the FDA's Epigenomics Quality Control Group. RESULTS: Each sample is processed in multiple replicates by three whole-genome bisulfite sequencing (WGBS) protocols (TruSeq DNA methylation, Accel-NGS MethylSeq, and SPLAT), oxidative bisulfite sequencing (TrueMethyl), enzymatic deamination method (EMSeq), targeted methylation sequencing (Illumina Methyl Capture EPIC), single-molecule long-read nanopore sequencing from Oxford Nanopore Technologies, and 850k Illumina methylation arrays. After rigorous quality assessment and comparison to Illumina EPIC methylation microarrays and testing on a range of algorithms (Bismark, BitmapperBS, bwa-meth, and BitMapperBS), we find overall high concordance between assays, but also differences in efficiency of read mapping, CpG capture, coverage, and platform performance, and variable performance across 26 microarray normalization algorithms. CONCLUSIONS: The data provided herein can guide the use of these DNA reference materials in epigenomics research, as well as provide best practices for experimental design in future studies. By leveraging seven human cell lines that are designated as publicly available reference materials, these data can be used as a baseline to advance epigenomics research.
Keywords:5-Methylcytosine, Algorithms, CpG Islands, DNA, DNA Methylation, DNA Sequence Analysis, Epigenome, Genetic Epigenesis, High-Throughput Nucleotide Sequencing, Human Genome, Quality Control, Sequence Alignment, Sulfites, Whole Genome Sequencing
Source:Genome Biology
ISSN:1474-760X
Publisher:BioMed Central
Volume:22
Number:1
Page Range:332
Date:6 December 2021
Additional Information:Erratum in: Genome Biol 22(1): 350.
Official Publication:https://doi.org/10.1186/s13059-021-02529-2
PubMed:View item in PubMed
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https://edoc.mdc-berlin.de/19760/Preprint version

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