Zachry Soens Email & Phone Number

I am trained as a bioinformatician and human geneticist. My specific strength lies in the combination of my comprehension of human genetics and biology and my ability to apply bioinformatic data manipulation and analysis skills to investigate complex questions. My expertise is processing and analyzing next-generation sequencing data to identify a molecular diagnosis for patients with a genetic disease but my knowledge of NGS pipelines can be applied to any NGS platform or data type. I have been improving the molecular diagnosis rates of genetically heterogeneous Mendelian diseases by investigating novel mechanisms of disease-causing variation, identifying novel human disease genes, and developing pipelines that automate/expedite both processes. I have experience using machine learning methods to create gene-level predictive score annotations from multi-dimensional large data sources to expedite the process of novel disease gene identification and have frequently applied newly developed algorithms and annotations from the literature to identify previously overlooked disease-causing variation.My primary career motivation is to have a positive impact on human health by discovering, enabling the application of, or developing potential new therapeutics. I enjoy the translational aspect of my work which directly enables patients to improve their quality of life by gaining a greater understanding of their own disease or disease risk and how they can manage or even treat it. I enjoy offering consultation and advise for other researchers with their own projects relevant to my skill set.