I am a principal software developer/informatician for the Human Genetics Informatics group. I work closely with the faculty of Human Genetics to develop informatics solutions to analyse and visualise genomic data from population studies utilising current technologies. I enjoy creating user-friendly and interactive applications that contrinute to the presentation and analysis of biological data.
I am currently involved in developing software solutions to analyse genome-wide association studies datasets from two projects of the human genetics faculty. I am using hail, a python based data analysis tool that uses spark technologies to distribute the data on cloud clusters.
I have a background in genetics, computer science and bioinformatics and have worked as a cancer analyst for Genomics England but also as a lead clinical bioinformatician for the NHS. I am an HCPC registered clinical scientist and I have worked on diagnostic pipelines and clinical software development for many years.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Genetics in medicine : official journal of the American College of Medical Genetics 2019
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genetics in medicine : official journal of the American College of Medical Genetics 2018;20;10;1196-1205
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Cold Spring Harbor molecular case studies 2018;4;2
Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.
Genetics research 2016;98;e15
Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing.
PloS one 2015;10;8;e0135058
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
BioMed research international 2013;2013;346762
A fast and efficient algorithm for mapping short sequences to a reference genome.
Advances in experimental medicine and biology 2010;680;399-403
Algorithms for mapping short degenerate and weighted sequences to a reference genome.
International journal of computational biology and drug design 2009;2;4;385-97