Manolis Kellis

TL;DR: Several steps in the SEP discovery workflow are optimized to improve SEP isolation and identification, leading to the detection of several new human SEPs (novel human genes), improved confidence in theSEP assignments, and enabled quantification of SEPs under different cellular conditions.

TL;DR: It is shown that enhancers significantly overlap known loci associated with the cardiac QT interval and QRS duration, and it is demonstrated that these 'sub-threshold' signals represent novel loci, and that epigenomic maps are effective at discriminating true biological signals from noise.

TL;DR: PhyloCSF as mentioned in this paper is a comparative genomics method that analyzes a multi-species nucleotide sequence alignment to determine whether it is likely to represent a conserved protein-coding region, based on a formal statistical comparison of phylogenetic codon models.

TL;DR: A comparison of the epigenomes of normal and cancerous stem cells, and pluripotent and differentiated states shows that the presence of at least two DNMTs is strongly associated with loci targeted for DNA hypermethylation, and shed important light on the determinants of DNA methylation and how it may become disrupted in cancer cells.

TL;DR: The authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery that discovers significantly enriched pathways across multiple datasets using statistical data fusion.