Author

Anne Elizabeth Cust

The University of SydneyORCID 0000-0002-5331-6370Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:polygenic risk· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Jane M. PalmeriD· 2 shared Mai XuiD· 2 shared Nicholas G. MartiniD· 2 shared Nicholas K. HaywardiD· 2 shared Abigail Dennis· 1 shared Aidan O’BrieniD· 1 shared Alan R. SandersiD· 1 shared Alex Stratigos· 1 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jane M. PalmerORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Melanoma germline genetics: immune, cancer driver, and Wnt signaling genes

G J M Shanika R Jayasinghe, Jianxin Shi, Rohit Thakur, Rebecca Ivy Hartman, Huanwei Wang, Phuc H. Hoang, Daniel R. Dochtermann, Samuel Anyaso-Samuel, Mathias Seviiri, Quan Hoang Nguyen, P. Prakrithi, Thi-Van-Trinh Tran, Xiaoyu Wang, Mai Xu, Xing Hua, , Nhan Do

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

medRxiv · Oct 15, 2026 · PreprintGenetic & Genomic Medicine

A Genome-wide Genetic Data Resource for the 45 and Up Study

Hamzeh Mesrian Tanha, David Goldsbury, Richard Parker, Natalie Garden, Erika de Guzman, Greer Dawson, Kerrin Bleicher, Alison Cowle, Martn McNamara, Anne Elizabeth Cust, Nicholas G. Martin, Julia Steinberg

The paper generates and validates genome-wide genetic data for the 45 and Up Study cohort, enhancing its utility for disease risk and precision health research.

medRxiv · Sep 22, 2026 · PreprintGenetic & Genomic Medicine

Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma

Peter A. Johansson, Kelly M. Brooks, Jane M. Palmer, Vaishnavi Nathan, Mai Xu, Jessica L. Scales, Rebecca Hennessey, E. Holland, Mark Harland, S Hutchison, Pui Ying Chan, Aravind Sankar, Sophie Papiernik, Abigail Dennis, Rohit Thakur, , Antonia L. Pritchard

The paper identifies a large distant deletion in DMRTA1 upstream of CDKN2A that predisposes to melanoma by disrupting regulatory sequences and reducing p16 expression.

medRxiv · May 18, 2026 · PreprintGenetic & Genomic Medicine