Author
QIMR Berghofer Medical Research InstituteORCID 0000-0001-5034-5996Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Olga Kondrashova, Rebecca L. Johnston, Michael T. Parsons…·Amanda B. Spurdle
The paper develops machine learning models to predict pathogenicity of BRCA1 and BRCA2 variants using cancer genomic profiles, improving classification of variants of uncertain significance.
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle
Rehan Marie Villani, Maddison E. McKenzie, Aimee L. Davidson, Amanda B. Spurdle
The paper calibrates bioinformatic tools to classify 5' cis-regulatory variants in Mendelian disease using clinical and population datasets, finding optimal thresholds differ from coding variant standards.
Daffodil M. Canson, Aimee L. Davidson, Miguel de la Hoya…·Amanda B. Spurdle
The paper introduces SAI-10k-calc, a tool that extends SpliceAI to predict splicing aberrations and their effects, achieving high sensitivity and specificity for variant impact prediction.
Vanessa Bonazzi, Olga Kondrashova, Deborah S. Smith…·Pamela M. Pollock
The paper develops endometrial cancer PDX models that capture tumor heterogeneity and predict response to talazoparib.