United States
• Develop and coordinate informatics strategy for the TGMI, an international collaboration to provide the tools, resources, and standards required to deliver genetic medicine in the era of genomics • Advise on strategy and execution of a gene + disease map for all protein-coding genes • Create a standardized framework for consistent annotation and reporting of gene variation for both the research and clinical communities • Contribute to publication and distribution of tools and resources to implement the aims of the TGMI, including a system for fast, automated, large-scale gene variation interpretation
• Develop, manage and publish publicly available products for clinical NGS analysis including four software tools (CAVA, OpEx, DECoN, CoverView) and four validation datasets (ICR1000, ICR142, ICR96, ICR639) • Draft and refine manuscripts, resulting in 9 papers including 2 first author publications in major journals • Regularly present to diverse audiences, ranging from general internal presentations to IT and HR staff to detailed academic presentations to leading authorities in the field at international conferences including two presentations at ASHG • Identify novel childhood genetic disorder and cancer predisposition genes in multiple studies using data from 2,000+ families • Provide advice and custom analyses for investigations pertaining to genetic predisposition • Insight into BRCA variant pathogenicity through integration and analysis of exome sequencing, copy number array, and methylation data from germline and tumor samples from 7,632 cancers
• Creation, development and implementation of Python-based NGS pipeline (SALSA) in UNIX environment and SQL Server lab database with Access front-end for testing of cancer predisposition genes in cancer patients with successful and ongoing clinical implementation from first quarter of 2014 • Oversee the development and validation of NGS analysis in accredited clinical testing laboratory delivering cancer gene testing for patients in the NHS, the UK’s nationalized health service • Guide development of software tools for clinical users and lab staff to facilitate NGS data analysis • Oversee data management and storage for both clinical and research samples run through the TGLclinical laboratory
Developed analysis methods to identify true somatic mutations in clinical tumor samples.