My PhD thesis Understanding the epigenome using system genetics is now online in the repository of the University of Cambridge
http://www.repository.cam.ac.uk/handle/1810/246693
Understanding the epigenome using system genetics
Genetics has been successful in associating DNA sequence variants to both dichotomous and continuous traits in a variety of organisms, from plant and farm animal studies to human disease. With the advent of high-throughput genotyping, there has been an almost routine gen- eration of genome-wide …
![A. Plot of the metric to distinguish single-active from both active-sites, across the X chromosome for a variety of molecular assays (mRNA, ncRNA, DNase I and CTCF, coloured according to the key). B. A smooth density of the distribution of the dosage compensation fit for the 4 molecular assay types, with CTCF split into the 3 classifications (single active, both active and female specific). C. Allele-specific signal of heterozygote sites on the X chromosome from the 13 clonal female lines in the sample. The both-active sites show balanced allele-specificity, whereas the single-active sites show strong single allele CTCF binding. D. Box plot of the gender-specific behaviour of the DNase I assay at the major classes of X chromosome CTCF sites. DNase I data was collected in a different laboratory on different cell lines [17]. The both-active class shows a strong gender split, consistent with females having around double the signal, whereas the single-active sites show no gender change. doi:10.1371/journal.pgen.1004798.g005](http://www.sandertimmer.nl/wp-content/uploads/2015/01/journal.pgen_.1004798.g005.png)
