Senior Staff Bioinformatics Scientist
CurrentDepartment: Computational Biology- Lead a small team focused on developing, improving, and applying analysis workflows to characterize genomics data.- Developed and released HPC/multi-cloud workflows for variant calling, filtering, annotation, and prioritization for rare and inherited disease studies (HiFi-human-WGS-WDL, pb-human-wgs-workflow-snakemake, HiFi-human-assembly-WDL).- Worked alongside customers to apply long-read sequencing to rare disease research and identify candidate variation (Del Gobbo et al., 2023), (Mehinovic et al., 2022), (Cohen et al., 2022), (Laine et al., 2021), (Cook et al., 2020), (Tseng et al., 2019), (Cheung et al., 2022), (Kucuk et al., 2023).Worked within the NIST Genome in a Bottle consortium to improve human variant calling benchmarks (Wagner et al., 2022), including in MHC (Chin et al., 2020), and other challenging medically relevant regions (Wagner et al., 2022).- Through collaborations, guided the development and improvement of tools and applications for long-read sequencing data, e.g., HiFi WGS (Wenger et al., 2019), TRGT (Dolzhenko et al., 2024), HiPhase (Holt et al., 2024), DeepConsensus (Baid et al., 2022), (Belyaeva et al., 2022), DNAscope LongRead (Freed et al., 2022), and PGx analysis (van der Lee et al., 2022).- Support commercial teams by leveraging pilot experiments into sales and collateral.- Present research at conferences or in webinars (presentations, posters), and train customers and internal teams on analysis workflows.- Provide escalated customer support for complex data analysis and interpretation.
