Author

John‐Paul Plazzer

The Royal Melbourne HospitalORCID 0000-0001-5114-4301Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Finlay MacraeiD· 2 shared Gabriel CapelláiD· 2 shared Ian M. FraylingiD· 2 shared Marc S. GreenblattiD· 2 shared Albert TenesaiD· 1 shared Alexandra MartinsiD· 1 shared Amanda B. SpurdleiD· 1 shared Andreas LaneriD· 1 shared

Activity by Year

2024-2024 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Finlay MacraeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJul 14, 2024

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

Eilidh Fummey, Pau Navarro, John‐Paul Plazzer…·Albert Tenesa

The paper estimates cancer risk in Lynch syndrome carriers using UK Biobank data, finding elevated colorectal and endometrial cancer risks but not breast cancer.

29 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 15, 2024

Phenotype correlations with pathogenic DNA variants in the MUTYH gene

Monica Thet, John‐Paul Plazzer, Gabriel Capellá…·Finlay Macrae

This paper reviews the phenotypic spectrum of MUTYH-associated polyposis (MAP) to clarify associations between pathogenic MUTYH variants and various cancers and extracolonic manifestations.

1 citation

humanbenchmarking

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Genetic & Genomic MedicinemedRxivPreprintMay 13, 2024

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

7 citations

statistical modelvariant effect prediction

𝕏 PostBluesky