News

  • Large samples of human standing variation data highlight regional variation in the tolerance to missense variation within the protein-coding sequence of genes. This information is not well captured by existing bioinformatic tools, but is effective in improving variant interpretation. Slavé Petrovski and I addressed this limitation in exisiting tools in our recently published Genome Research paper, where we introduce the missense tolerance ratio (MTR), which summarizes available human standing variation data within genes to encapsulate population level genetic variation.Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
    J Traynelis, M Silk, Q Wang, S Berkovic, L Liu, D Ascher, D Balding and S Petrovski, Genome Research (2017) doi:10.1101/gr.226589.117
  • My paper with Doug Speed (preprint: BioRxiv) has just (Mar 2017) been accepted in Nature Genetics.  We show that many existing results on SNP-heritability need to be re-evaluated with better models for effects of MAF, LD and genotype certainty.  Current estimates are generally too low because these factors are not modelled appropriately, but we also show that published estimates of heritability of DHS sites are far too high.
  • The Conversation article on inbreeding in pedigree dogs has had >1/4 million readers – join the crowd here.
  • My primary affiliation is now the University of Melbourne, where since Nov 2014 I have a joint appointment between the Schools of BioSciences and Maths & Stats (location details below).
  • I retain an affiliation with UCL.
  • Together with Debbie Kennett, Mark Thomas and Adrian Timpson, I have developed a set of web pages under the heading “Debunking Genetic Astrology”, aimed at highlighting misuses of genetic ancestry testing.  See http://www.ucl.ac.uk/mace-lab/debunking.