Postdoctoral Research Scientist
Postdoctoral Research Scientist in Computational Biology
I was trained as a physicist and, in March 2015, I graduated from Swansea University with a PhD in theoretical physics. During my PhD I developed mathematical models to describe the thermodynamics of black holes, the astrophysical objects located at the centre of galaxies.
After gaining my PhD, I joined the Intelligent Systems Laboratory (ISL) at University of Bristol. As a postdoctoral researcher at ISL, I built classifiers for predicting the functional impact of short insertions and deletions (collectively known as indels) in the human genome.
There is currently high interest in tools capable of assessing the functional impact of mutations. While an abundance of models have been developed for the analysis of protein coding regions, only few of them can also be applied to non-coding portions of the human genome. Furthermore, the vast majority of such methods focus on single nucleotide variants and, therefore, are unable to evaluate the impact of indels. To fill in this gap, I developed FATHMM-indel, a computational model capable of prioritising and predicting the functional class of indels outside the human exome. FATHMM-indel was specifically designed to prioritise indels throughout the whole non-coding genome, aiming at deepening the understanding of the role played by non-coding variants in human disease.
As of June 2016, I'm a member of Dr Nellaker's Group at the Big Data Institute, where I develop computational biology techniques and deploy machine learning algorithms to facilitate clinical diagnoses of rare diseases.
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
Ferlaino M. et al, (2017), BMC Bioinformatics, 18
GTB - an online genome tolerance browser.
Shihab HA. et al, (2017), BMC Bioinformatics, 18
Predicting the Pathogenic Impact of Sequence Variation in the Human Genome.
Rogers MF. et al, (2017), Stud Health Technol Inform, 235, 91 - 95