BSc (Hons); MSc; PhD
I am a bioinformatician specialising in the analysis of high-throughput genome and exome sequencing experiments and have developed web tools to allow the storage, filtering and visualisation of genomic data. These include MIG (Multi-Image Genome), miR-CRISPR, HEM, Capsequm and Sasquatch. I have generated a number of sample and clinical databases for research groups at the WIMM and have developed a variant analysis database to store and query predicted variants arising from genome-wide sequencing.
Prior to my time at the Computational Biology Research Group (CBRG) in the WIMM, I worked as a bioinformatician for four years at Oxford GlycoSciences (OGS) - a biotechnology/proteomics company. While at OGS I developed novel analysis methods for the interpretation of proteomics data, and initiated and developed a project to use this data in the annotation of the human genome.
During my PhD studies at the University of Warwick, I examined the light-induced production of carotenoids in Myxococcus xanthus. I then completed two post-doc positions in the lab at Warwick University and at the Department of Biochemistry, University of Cambridge, where my work centred on carbapenem antibiotic biosynthesis in Erwinia carotovora.
Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)
Farmery JHR. et al, (2018), Scientific reports, 8
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Zhou Y. et al, (2018), Hum mutat, 39, 1360 - 1365
Germinal Center B Cells Replace Their Antigen Receptors in Dark Zones and Fail Light Zone Entry when Immunoglobulin Gene Mutations are Damaging.
Stewart I. et al, (2018), Immunity, 49, 477 - 489.e7
Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device.
Marie R. et al, (2018), Lab chip, 18, 1891 - 1902
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF. et al, (2018), Am j hum genet, 102, 1195 - 1203