Author

David L. Duffy

QIMR Berghofer Medical Research InstituteORCID 0000-0001-7227-632XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 5 Organism:human· 5 Approach:statistical model· 5 Assay:GWAS summary statistics· 4 Assay:bulk RNA-seq· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:fine-mapping· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

David Timothy BishopiD· 4 shared Jiali HaniD· 4 shared Grant W. MontgomeryiD· 3 shared Kevin M. BrowniD· 3 shared Mark Martin IlesiD· 3 shared Matthew H. LawiD· 3 shared Nicholas K. HaywardiD· 3 shared Stuart MacGregoriD· 3 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

David Timothy BishopORCID

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5 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 15, 2026

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

G J M Shanika R Jayasinghe, Jianxin Shi, Rohit Thakur…·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.

DOI 10.64898/2026.10.14.26365068

humanGWAS summary statistics

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 10, 2026

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

G J M Shanika R Jayasinghe, Gu Zhu, Nirmala Pandeya…·Matthew H. Law

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

3 citations

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsNature Human BehaviourPeer-reviewedSep 28, 2020

Genome-wide association study identifies 48 common genetic variants associated with handedness.

Gabriel Cuéllar-Partida, Joyce Y. Tung, Nicholas Eriksson…·Gérard Waeber

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

159 citations

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsNature CommunicationsPeer-reviewedNov 8, 2018

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

David L. Duffy, Gu Zhu, Xin Li…·Nicholas Orr

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

117 citationstop 2%

humanGWAS summary statistics

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GeneticsGenome ResearchPeer-reviewedNov 1, 2018

Cell-type specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

Tongwu Zhang, Jiyeon Choi, Michael A. Kovacs…·Kevin M. Brown

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.

84 citations

humanbulk RNA-seq

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