I lead the Human Genetics Informatics Team, which connects the Human Genetics faculty groups to the best methods and biological pipelines to support their experiments.
At Sanger we have the privilege of running experiments at very large scales: my job is to deal with the myriad requirements of Human Genetics analysis at these scales, to help my group create, evaluate and run cutting edge biological pipelines and methods, so that we can best help the Human Genetics faculty groups. We have the freedom to both find and use best practice, and also to explore experimental strategies (for instance, when querying and filtering very large genetic datasets). I believe we have to aggressively pursue both approaches!
I have been involved in analysing germline and somatic human variant data, RNASeq data, designing and doing statistical analyses around targeted, genome-wide and paired-guide CRISPR screens. I was also involved in writing and leading the development of LIMS systems producing mutant ES Cells and mice in high throughput, for the EUCOMM, KOMP and IMPC programs – two LIMS systems (here and here) and a coordinating system (iMITS) for IMPC mouse production. That field has been revolutionised by the advent of CRISPR-based genome editing, and our software interests followed that change with WGE, a CRISPR-design tool.
Team Lead, Human Genetics Informatics, WSI
Principal Bioinformatician, Experimental Cancer Genetics, WTSI
Software Team Leader, High Throughput Gene Targeting, WTSI
Software Developer, High Throughput Gene Targeting, WTSI
Ensembl developer, WTSI
Software Developer, Chicago
PhD, Gravitation, University of Chicago
BSc(Hons), Mathematical Physics, University of Adelaide