epiGBS: reference-free reduced representation bisulfite sequencing.

van Gurp, Thomas P; Wagemaker, Niels C A M; Wouters, Björn; Vergeer, Philippine; Ouborg, Joop N J; Verhoeven, Koen J F · Nat Methods · 2016

basic_science · Level V

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Abstract

We describe epiGBS, a reduced representation bisulfite sequencing method for cost-effective exploration and comparative analysis of DNA methylation and genetic variation in hundreds of samples de novo. This method uses genotyping by sequencing of bisulfite-converted DNA followed by reliable de novo reference construction, mapping, variant calling, and distinction of single-nucleotide polymorphisms (SNPs) versus methylation variation (software is available at https://github.com/thomasvangurp/epiGBS). The output can be loaded directly into a genome browser for visualization and into RnBeads for analysis of differential methylation.

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