My primary research interest is in developing new methods to analyze next-generation DNA sequencing data to aid disease understanding, diagnosis, prognosis, and treatment. My genomics research began in 2010 as a summer intern at NHGRI, where I created a quality control method to identify lane biases in Illumina HiSeq datasets. Since then, I have worked on several projects using targeted, exome, or whole genome sequencing from cohorts or families in search of disease causative variants. As a graduate student at Stanford, I developed methods to understand the clinical impact of genome sequencing, and created metrics and methods to evaluate and improve genetic variant discovery accuracy. At The Jackson Laboratory, I’ve been focusing on developing bioinformatics pipelines to identify epigenomic patterns from tumor, normal, and cell-free DNA, and, separately, for analyzing long-read RNA sequencing.
Beyond my research goals, I am passionate about educating others about genomics and its impact on medicine and on our lives. Towards this end, I created and co-taught a Stanford University course on Personalized Genomic Medicine, where students learned about cutting-edge genomic technologies and their application to health and medicine. I also enjoy coordinating and leading educational workshops including The Jackson Laboratory’s Workshop on Long Read Sequencing.
PhD, Biomedical Informatics
Adv: Dr. Euan Ashley
Adv: Dr. Francis Collins
Washington University in St. Louis
BS Biomedical Engineering
This 4-day workshop will explore long-read sequencing technologies including Pacific Biosciences, 10x Genomics, Bionano, and Oxford...
This 3-day workshop will explore the technology underlying long read sequencing platforms and the associated data analysis pipelines. We...
Long-read sequencing is now the standard in genomics for assembling genomes, identifying structural variants, sequencing through repetitive...