UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


PhD Studentship in Somatic Mutational Profiling of Genetic Disease

Using somatic mutational profiling to model incidence and phenotypic variation in genetic disease

Primary Supervisor: Professor Veronica Kinsler

Senior Group Leader, Francis Crick Institute, London; Professor of Paediatric Dermatology and Dermatogenetics, Great Ormond St Hospital and GOS UCL Institute of Child Health, London.


Secondary Supervisor(s): Professor Wenyi Wang

Professor, Department of Bioinformatics and Computational Biology, Division of Quantitative Sciences, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.


Day-to-day supervision will be provided by a post-doctoral researcher in bioinformatics in the Kinsler lab.

Project outline

The discovery of somatic mutational signatures is one of the great breakthroughs in the understanding of genetics in recent years.  Until now, somatic mutational profiling has largely been used to study cancers and normal human development.  This project will investigate the role of somatic mutational profile in de novo autosomal dominant genetic diseases, both germline and mosaic.    This highly innovative application of bioinformatics to the fundamentals of disease development is likely to lead to publication for a committed candidate. There is the possibility of combining the bioinformatics project with some wet lab work if the student wishes to develop skills in that direction.


1.         Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534(7605):47-54.

2.         Morganella S, Alexandrov LB, Glodzik D, Zou X, Davies H, Staaf J, et al. The topography of mutational processes in breast cancer genomes. Nature communications. 2016;7:11383.

3.         Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, et al. Timing, rates and spectra of human germline mutation. Nature genetics. 2016;48(2):126-33.