I am a Bioinformatician working within the Wellcome Centre for Mitochondrial Research, supporting the application of a wide variety of –omics approaches to advance the understanding of mitochondrial biology and disease mechanisms and contribute to programmes of work aimed at developing novel therapies.
I provide bioinformatics leadership and support for all stages of –omics projects, from advising on experimental design to computational and statistical data analyses and interpretation.
Since joining the Centre in 2020, my work has focussed on a diverse range of projects including the analysis of whole exome and whole genome sequencing data; variant annotation and prioritisation; large-scale RNA-seq studies focusing on biomarker discovery; third-generation Nanopore sequencing; and population genomic analysis of data from Genomics England’s 100,000 Genomes Project.
1. Development and maintenance of analytical pipelines for multi dimensional datasets (whole exome and whole genome sequencing; RNA sequencing, third-generation Nanopore sequencing) from patient-derived samples and model systems.
2. Population genomics of mitochondrial DNA variation.