Author
Garvan Institute of Medical ResearchORCID 0000-0002-9706-0514Unclaimed ORCID profile · follow to get notified of new preprints
2 papers
Recent·Most cited
Sandeep Kaur, Neblina Sikta, Andrea Schafferhans…·Sean I O’Donoghue
The paper presents a streamlined system for integrating 3D protein structures into variant analysis, enabling easy variant specification and access to structural insights.
Seung Jun Shin, Elissa B. Dodd-Eaton, Gang Peng…·Wenyi Wang
The paper estimates cancer-specific penetrance in Li-Fraumeni syndrome using a statistical model and validates it across multiple cohorts, showing age-dependent risk patterns for different cancer types.