We are a computational biology group based in the MRC Human Genetics Unit at the University of Edinburgh with broad interests in human disease genomics and molecular evolution. Our group performs computational analyses of large-scale genomic, transcriptomic and epigenomic datasets to shed light on the regulatory mechanisms encoded in the human genome. We also study the ways these mechanisms can be disrupted in developmental disorders and in cancers. We collaborate with a wide range of experimental biologists and clinicians, from small groups of local researchers to international consortia. Our work is funded by the MRC and CSO.
Vera’s analysis of spermatogonial ATAC-seq data from Martin Taylor’s lab is now available (biorxiv; tweetorial) and shows that spermatogonial regulatory sites that are bound by particular factors (such as NRF1) are associated with higher mutation rates. Human populations show enrichment for singleton (ie relatively recent) deletion breakpoints at these sites. Surprisingly the same sites are … More Mutational bias in spermatogonia impacts human regulatory sites