Home Department: Mathematical & Computational Science
Mentor: Carlos Bustamante, Biomedical Data Science and Genetics

The interpretation of genetic variants for human disease requires synthesizing numerous lines of evidence, from medical case studies to experimental results. Emily will quantify the performance of existing adjudication rubrics developed as part of the ClinGen Gene and Variant Curation Interfaces. By better understanding how medical professionals interpret genetic research, we can better inform the translation of basic research to clinical care.