Author

John James Atherton

Royal Brisbane and Women's HospitalORCID 0000-0003-2271-578XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:polygenic risk· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra ButtersiD· 1 shared Alicia B. ByrneiD· 1 shared Anne RonaniD· 1 shared Baptiste Couvy‐DuchesneiD· 1 shared Christopher SemsarianiD· 1 shared Colleen A. CaleshuiD· 1 shared Daniel G. MacArthuriD· 1 shared Diane FatkiniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra ButtersORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 22, 2026

Utility of polygenic risk scores in diagnostic genetic testing for dilated cardiomyopathy

Utpala Nanda Chowdhury, Eleni Giannoulatou, Diane Fatkin…·Sonia H Shah

This study evaluates polygenic risk scores (PRS) in dilated cardiomyopathy (DCM) patients, finding higher PRS in those without monogenic variants and TTN-related DCM, suggesting polygenic contributions.

DOI 10.64898/2026.01.20.26344484

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintFeb 8, 2024

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Alexandra Butters, Kate L. Thomson, Francesca Harrington…·Jodie Ingles

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

3 citations

humanwhole-exome sequencing

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