2012/10/07 by Nicola Prezza, Cristian Del Fabbro, Francesco Vezzi +2 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #RNA modifications and cancer #Cancer-related gene regulation #DNA methylation #Bisulfite sequencing #Computational biology #DNA sequencing #Cytosine #DNA #Genome #CpG site #Bisulfite #5-Methylcytosine #Epigenetics #Genetics #Biology #Gene #Computer science #Gene expression
paper · doi:10.1145/2382936.2382938
openalex publication_date 2012/10/07 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/29
Cytosine methylation is a DNA modification that has great impact on the regulation of gene expression and important implications for the biology and health of several living beings, including humans. Bisulfite conversion followed by next generation sequencing (BS-seq) of DNA is the gold standard technique used to detect DNA methylation at single-base resolution on a genome scale through the identification of 5-methylcytosine (5-mC). However, by converting unmethylated cytosines into thymines, BS-seq poses computational challenges to read alignment and aggravates the issue of multiple hits due to the ambiguity raised by the reduced sequence complexity.