2019 Undergraduate Summer Research Program Participant

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

The interpretation of genetic variantsPhoto of undergraduate student Emily Huang sitting in front of a computer monitor showing many lines of code. 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.