Author

Maddison E. McKenzie

QIMR Berghofer Medical Research InstituteORCID 0009-0006-3466-4210Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 2 shared Rehan Marie VillaniiD· 2 shared Abbye E. McEweniD· 1 shared Aimee L. DavidsoniD· 1 shared Alan F. RubiniD· 1 shared Ben LundieiD· 1 shared Bronwyn TerrilliD· 1 shared Christopher Norman HahniD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 4, 2024

Consultation informs strategies to improve functional evidence use in variant classification

Rehan Marie Villani, Bronwyn Terrill, Emma Tudini…·Amanda B. Spurdle

The paper surveys genetic professionals on functional evidence use in variant classification and identifies the need for expert recommendations and guidelines.

3 citations

statistical modelbenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintDec 21, 2023

Regional-specific calibration enables application of bioinformatic evidence for clinical classification of 5 prime cis-regulatory variants in Mendelian disease

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.

DOI 10.1101/2023.12.21.23300413

humanwhole-exome sequencing

𝕏 PostBluesky