Author

Emma Tudini

QIMR Berghofer Medical Research InstituteORCID 0000-0002-5834-7862Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:benchmarking· 2 Organism:human· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 4 shared Alan F. RubiniD· 2 shared Ben LundieiD· 2 shared Bronwyn TerrilliD· 2 shared Bryony A. ThompsoniD· 2 shared Christopher Norman HahniD· 2 shared Corrina C. CliffeiD· 2 shared Ebony MatotekiD· 2 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 10, 2025

Workshops to improve use of functional evidence build confidence and suggest a practice development approach.

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

The paper presents a workshop-based approach to improve confidence and standardize the use of functional evidence in variant classification through community discussion and consultation.

DOI 10.1101/2025.11.10.25339935

experimental assaybenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 25, 2025

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle

1 citation

humanstatistical model

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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 MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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