I am an avid reader, and Sherlock Holmes novels and Genetics articles are some of my favorite pieces to read. Variant curation sits exactly at their intersection.
Formally trained in curation through my Masters coursework and Clinical Internship, I approach curation through multiple overlapping perspectives. I evaluate variant pathogenicity using established evidence based frameworks and databases while applying prior molecular genomics and disease biology knowledge to accurately classify variants.
The curated variant examples and associated reports demonstrate my ability to apply genome curation approaches in accordance with clinical genomics practices.