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Simultaneous assessment of human genome and methylome data in a single experiment using limited deamination of methylated cytosine

  1. Laurence M Ettwiller1,3
  1. 1 New England Biolabs;
  2. 2 SLC Management
  • * Corresponding author; email: ettwiller{at}neb.com
  • Abstract

    Multiomics requires concerted recording of independent information, ideally from a single experiment. In this study, we introduce RIMS-seq2, a high-throughput technique to simultaneously sequence genomes and overlay methylation information while requiring only a small modification of the experimental protocol for high throughput DNA sequencing to include a controlled deamination step. Importantly, the rate of deamination of 5mC is negligible and thus, do not interfere with standard DNA sequencing and data processing. Thus, RIMS-seq2 libraries from whole or targeted genome sequencing show the same germline variation calling accuracy and sensitivity as compared to standard DNA-seq. Additionally, regional methylation levels provide an accurate map of the human methylome.

    • Received July 19, 2023.
    • Accepted June 4, 2024.

    This manuscript is Open Access.

    This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International license), as described at http://creativecommons.org/licenses/by/4.0/.

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    1. Genome Res. Published by Cold Spring Harbor Laboratory Press

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