Author

William John Astle

University of CambridgeORCID 0000-0001-8866-6672Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 4 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 3 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

Adam S. ButterworthiD· 3 shared James E. PetersiD· 2 shared Tao JiangiD· 2 shared Vijay G. SankaraniD· 2 shared Adriana MendeziD· 1 shared Agnieszka BierżyńskaiD· 1 shared Aitzkoa Lopez de Lapuente PortillaiD· 1 shared Allan LawrieiD· 1 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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3 shared papersGenetics

Adam S. ButterworthORCID

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5 papers

Recent·Most cited

Genetic & Genomic MedicineNaturePeer-reviewedSep 30, 2026

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

C. Guo, Uma P. Arora, Xiaoheng Cheng…·Vijay G. Sankaran

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

DOI 10.1038/s41586-026-11113-2

humanGWAS summary statistics

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GeneticsCell GenomicsPeer-reviewedApr 11, 2025

Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits

Feng Zhou, William John Astle, Adam S. Butterworth, Jennifer L. Asimit

The paper introduces a method to improve genetic discovery and fine-mapping by analyzing latent factors from high-dimensional traits, showing enhanced power compared to traditional approaches.

5 citations

humanGWAS summary statistics

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GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

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GeneticsbioRxivPreprintJan 30, 2020

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

Parsa Akbari, Dragana Vuckovic, Tao Jiang…·William John Astle

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

7 citations

humanbulk RNA-seq

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GeneticsbioRxivPreprintDec 10, 2018

Genetically distinct clinical subsets, and associations with asthma and eosinophil abundance, within Eosinophilic Granulomatosis with Polyangiitis

Paul Lyons, James E. Peters, Federico Alberici…·Kenneth G. C. Smith

This study identifies genetic subsets of EGPA associated with asthma and eosinophil levels, revealing two distinct clinical and genetic syndromes.

10 citations

humanGWAS summary statistics

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