Experienced as scientist and informatician, I designed and now lead the COSMIC project, collecting the world's knowledge of somatic mutations in human cancer.
With 20 years experience in cancer genetics, I am still surprised by the range and complexity of somatic mechanisms driving this disease. My challenge is to ensure the widely-dispersed information in this published literature is sensibly gathered into one place, helping scientists explore the causes of disease. One of my key roles is to get away from the Sanger Institute and meet scientists using COSMIC; I frequently see a positive reception, and it is clear we provide a useful service supporting a wide range of academic, pharmaceutical and diagnostics research.
My publication listing begins with a single polymorphism and ends (so far) describing a database of millions; my full listing is here at Google Scholar.
COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
Nucleic acids research 2015;43;Database issue;D805-11
The Catalogue of Somatic Mutations in Cancer (COSMIC).
Current protocols in human genetics 2008;Chapter 10;Unit 10.11
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
American journal of human genetics 1998;62;2;232-44