Senior Bioinformatics Scientist
Nationwide Children's Hospital
Westerville, Ohio, United States
I am a Senior Bioinformatics Scientist at Nationwide Children’s Hospital with over 8 years’ experience in the field of computational genetics and bioinformatics. During my PhD I studied ciliopathies and rare eye disease using Next-Generation sequencing, bioinformatics, and machine learning. I helped develop both the clinical and research sequencing pipelines used by the Institute for Vision Research. Using these pipelines, I analyzed over 750 exomes of patients with rare eye diseases using a wide variety of the latest genomic tools to identify the cause of patients’ disease. I also analyzed multiple RNA sequencing projects in both human cells and mouse models. These different projects taken together allowed me to develop a wide array of technical skills that include coding in multiple different languages, system administration and server building, machine-learning, and an incredibly strong knowledge of different Next-Generation sequencing tools and protocols. After my PhD I spent three years at a clinical oncology report company building their sequencing pipelines and the infrastructure needed to store all the data necessary to produce the best clinical report possible. I am intimately familiar with the ACMG and AMP guidelines along with all the databases and tools used within those guidelines. I have a deep understanding of the challenges that researchers and clinicians face when using many different databases with different standards of formatting and annotation in their workflows. I work with our clinical team and collaborators to develop tools and resources to harmonize data and perform variant classification within a clinical framework to provide clinicians with the best data possible to treat patients.
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Standardized Nomenclature in Reporting Sequence Variants in Cancer
Saturday, November 18, 2023
4:45 PM - 5:15 PM MST