Mr Alejandro Sifrim, Msc.
This person is a member of Sanger Institute Alumni.
I'm a postdoctoral fellow and a computational biologist. My main research focus is data analysis and method development for the interpretation of large-scale genomic data in rare disease (currently developmental disorders and congenital heart disease).
I’m interested in understanding the impact of genomic mutations (from single base-pair to large structural rearrangements) and how they affect human phenotypes. In order to achieve this, I strive to develop statistical, machine learning and visualization approaches which aid in finding and interpreting phenotype-altering mutations. This usually requires an exciting blend of cutting-edge computational techniques and a comprehensive understanding of recent developments in the field of clinical genomics. Previously I’ve done this by developing computational methods to prioritize mutations by fusing information of the mutation in question and the observed phentoype. I’m currently doing this in the context of the Deciphering Developmental Disorders Consortium, a UK-wide project with the aim of sequencing 12000 previously undiagnosed children with developmental disorders. More specifically I’m focussing on understanding the genetic architecture of congenital heart disease ranging from syndromic to non-syndromic cases.