Experience

Oxford Nanopore Technologies

• United Kingdom
• Biotechnology Research
• 700 & Above Employee

• Clinical Bioinformatics Lead, Associate Director

  • Oct 2021 - Present



Sheffield Bioinformatics Core

• United Kingdom
• Research Services

• Clinical Bioinformatics Core Scientist

  • May 2018 - Oct 2021



The University of Sheffield

• Higher Education
• 700 & Above Employee

• Honorary Lecturer

  • Oct 2016 - May 2018

  Lecturing on the Genome Medicine MSc Lecturing on the Genome Medicine MSc



Sheffield Diagnostic Genetics Service

• United Kingdom
• Biotechnology Research
• 1 - 100 Employee

• Lead Bioinformatician

  • Jun 2016 - May 2018

  - Adhering to bioifnormatics best practices - Clinical pipeline development & deployment - Providing research servcies to external clients - Leading a small team of bioinformaticians - Training clinical bioinfiormatics scientists - Adhering to bioifnormatics best practices - Clinical pipeline development & deployment - Providing research servcies to external clients - Leading a small team of bioinformaticians - Training clinical bioinfiormatics scientists



Genomics England

• United Kingdom
• Biotechnology Research
• 300 - 400 Employee

• Lead Cancer Bioinformatician

  • Jun 2014 - May 2016

  - Lead analysis of cancer programme for Genomics England. - Extensive quality control of whole genome sequence data. - Building pipelines for the analysis of whole genome sequencing data on a large scale, including contributing to the codebase of python tools to access openCGA catalog. - Determining priorities for other analysts in the cancer team. - Teaching on the newly formed MSc Genomic Medicine degree. - Lead analysis of cancer programme for Genomics England. - Extensive quality control of whole genome sequence data. - Building pipelines for the analysis of whole genome sequencing data on a large scale, including contributing to the codebase of python tools to access openCGA catalog. - Determining priorities for other analysts in the cancer team. - Teaching on the newly formed MSc Genomic Medicine degree.



St. Jude Children's Research Hospital - ALSAC

• United States
• Non-profit Organizations
• 700 & Above Employee

• • Mar 2013 - May 2014

  - Leading analysis of Exome, RNASeq and Whole Genome data for the clinical diagnostics pilot project.- Extensive cross-validation of sequencing using data generated as part of the pediatric cancer genome project (PCGP).- Ensuring documentation and code was up to the standard required for CAP/CLIA certi cation.- Prototyping tools for manual review of variants and a clinical reporting interface.- Supervision of junior analysts.

• • 2010 - Mar 2013

  - Analysis of Whole Genome, Exome and RNASeq data for the pediatric cancer genome project.- Disease co-ordination and publication writing for the Ependymoma, Medulloblastoma and Ewings Sarcoma projects.- Several key discoveries, highlights include recurrent DDX3X mutations in Medulloblastoma, and a highly recurrent fusion of C11orf95 and RELA in Supratentorial Ependymoma.- Production of gures for publications for the project in R.- Assessment of telomere length in pediatric cancer patients using WGS data. Show less



The Institute of Cancer Research

• Phd Student

  • Oct 2006 - Jun 2010