My main area of work is the development of a software pipeline for the automated analysis and variant calling from Next Generation Sequencing (NGS) data. The pipeline addresses all aspects of the workflow, from automated primer design and multiplexing, through sequence read demultiplexing and alignment, culminating in variant calling, annotation and verification. Key enhancements of variant calling have been improved raw call filtering resulting in increased sensitivity. Recent advancements include a novel analysis (unpublished) to detect intermediate sized insertions and deletions in targeted gene data.
Focus on case-control studies for both targeted gene and whole exome sequencing (WES) variant call sets.