Santa Clara, California, United States
Working as member of the bioinformatics group within the Genomics R&D/SW division to support development of NGS products, including library prep and target enrichment platforms SureSelect and HaloPlex.
• Conceptualized, designed and implemented a novel machine learning based approach for the prediction of the off-target read contribution of DNA probes in a target enrichment environment
• Collaborated in the development of novel DNA probe scoring models for target enrichment
• Generalized probe design framework to work with arbitrary scoring models (Python)
• Implemented analysis pipeline for dual molecular barcode data
• Created probe design for Agilent’s exome catalog designs, custom panel designs, and first targeted methylation assay with bisulphite-treated DNA for SureSelect
• Conducted research on probe performance improvement strategies geared toward increased genomic coverage
• Designed and implemented a high throughput SNP/InDel detection pipeline for NGS data (GATK, SGE)
• Designed and implemented an alignment and methylation detection pipeline for NGS data (Bismark, SGE)
• Integrated RNA-SeQC into an analysis tool for RNAseq library prep quality control
• Implemented diverse set of tools to support data management automation in a high throughput sequencing environment for custom data analysis (bash, python, SGE, cwl)