Machine Learning in the cloud, the easy way. I can tell, from experience, that having a simple model up and running will cost no-more than 10 minutes. Super excited to see what kind of tools will popup in the marketplace in the comings weeks.
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 …
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My first paper came out featuring work done during my PhD. The results regarding the binding of CTCF on the X chromosome is my work.
CTCF binding can be regulated by genetic variations
We have systematically measured the effect of normal genetic variation present in a human population on the binding of a specific chromatin protein (CTCF) to DNA by measuring its binding in 51 human cell lines. We observed a large number of changes in protein binding that we can confidently attribute to genetic effects. The corresponding genetic changes are often clustered around the binding motif for CTCF, but only a minority are actually within the motif.
The X chromosome and CTCF
Unexpectedly, we also find that at most binding sites on the X chromosome, CTCF binding occurs equally on both the X chromosomes in females at the same level as on the single X chromosome in males. This finding suggests that in general, CTCF binding is not subject to global dosage compensation, the process which equalizes gene expression levels from the two female X chromosomes and the single male X.
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