Epiphenotyping information

General methodology of epiphenotyping — This figure depicts the general workflow for epiphenotyping, focusing on the use of machine learning to generate valid models for predicting phenotypes from DNA methylation patterns.

Epiphenotyping involves studying the relationship between DNA methylation patterns and phenotypic traits in individuals and populations to be able to predict a phenotype from a DNA methylation profile. In the following sections, the background of epiphenotyping, an overview of a general methodology, its applications, advantages, and limitations are covered.

Epigenetics refers to heritable changes in gene expression that are not changes in the underlying DNA sequence..^[1]. DNA methylation is a key epigenetic mechanism, involving the addition of methyl (-CH₃) groups to specific DNA regions, almost always at cytosine-guanine dinucleotides (CpG sites). CpG sites are DNA sequences where a cytosine nucleotide is followed by a guanine nucleotide connected by a phosphate group.^[2]

^ Gibney, E. R.; Nolan, C. M. (July 2010). "Epigenetics and gene expression". Heredity. 105 (1): 4–13. doi:10.1038/hdy.2010.54. ISSN 1365-2540. PMID 20461105.
^ Moore, Lisa D.; Le, Thuc; Fan, Guoping (January 2013). "DNA Methylation and Its Basic Function". Neuropsychopharmacology. 38 (1): 23–38. doi:10.1038/npp.2012.112. ISSN 1740-634X. PMC 3521964. PMID 22781841.

[1] Gibney, E. R.; Nolan, C. M. (July 2010). "Epigenetics and gene expression". Heredity. 105 (1): 4–13. doi:10.1038/hdy.2010.54. ISSN 1365-2540. PMID 20461105.

[2] Moore, Lisa D.; Le, Thuc; Fan, Guoping (January 2013). "DNA Methylation and Its Basic Function". Neuropsychopharmacology. 38 (1): 23–38. doi:10.1038/npp.2012.112. ISSN 1740-634X. PMC 3521964. PMID 22781841.