Senior Computer Biologist
Sarah works within the Genome Reference Informatics team, which is part of the Genome Reference Consortium (GRC). She is responsible for the genomic care of reference assemblies that better represent diversity and provide more robust substrates for the Human, Mouse and Zebrafish genomes, thus ensuring that they remain biologically relevant.
Within the GRC I am working with others towards providing the best possible reference assemblies for the Human and Mouse Genomes, as well as the improvement and maintenance of the Zebrafish genome. I have responsibility for whole chromosomes from each of these species. Human Chromosomes 1 and U; Mouse, 11 and X; and Zebrafish, 5, 11, 22, 23 and 25. The role involves the assessment of sequencing data from the raw sequence level right through to that of whole chromosome assemblies, with a view to assembly improvement. This can be from both old and new sequencing technologies. For most mammalian genomes it has been shown that a single tiling path is insufficient to represent the genome in regions with complex allelic diversity so I also work towards the creation of assemblies which represent this diversity.
I have worked at the Sanger Institute for 17 years being involved initially in finishing for the Human Genome Project, and subsequently for the Mouse and Zebrafish Genome Projects before moving into work with the GRC.