Author
Stephen J. Bush
Roslin InstituteORCID 0000-0001-9341-2562Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2017-2026 · peak 6/yrCo-Author Collaboration Network
10 top collaborators · 15 mutual co-author links29 papers
Recent·Most cited
- Evolutionary BiologyCellPeer-reviewed
The evolution of high-order genome architecture revealed from 1,000 species
Yizhuo Che, Stephen J. Bush, Hui‐Yi Lin…·Kai Ye
This study uses Hi-C data from 1,025 species to trace the evolution of 3D genome architecture, revealing distinct patterns in global folding and checkerboard structures across different lineages.
6 citationstop 2% - GenomicsGenomics Proteomics & BioinformaticsPeer-reviewed
A Telomere-to-Telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet
Bo Wang, Peng Jia, Stephen J. Bush…·Kai Ye
The paper presents a telomere-to-telomere diploid reference genome for the Chinese Quartet, improving centromere structure annotation and enabling population-specific structural variant analysis.
4 citations - GenomicsbioRxivPreprint
A spermatogonial perspective on the expansion of the mammalian brain
The paper investigates the molecular overlap between spermatogonia and neural programs, showing enrichment of brain-expansion genes in spermatogonia across mammals.
DOI 10.1101/2025.09.15.676184 - BioinformaticsGenomics Proteomics & BioinformaticsPeer-reviewed
Deciphering complex interactions between LTR retrotransposons and three Papaver species using LTR_Stream
Tun Xu, Stephen J. Bush, Yizhuo Che…·Kai Ye
The paper develops LTR_Stream to cluster LTR-RTs in Papaver species, revealing complex interactions between retrotransposons and the host genome, including effects of allopolyploidization.
DOI 10.1093/gpbjnl/qzaf061 - ImmunologyPLoS GeneticsPeer-reviewed
Wild-type bone marrow cells repopulate tissue resident macrophages and reverse the impacts of homozygous CSF1R mutation.
Dylan Carter‐Cusack, Stephen Huang, Sahar Keshvari…·David Arthur Hume
This study shows that wild-type bone marrow cells can restore macrophage populations and reverse developmental defects in Csf1rko rats, but not in the brain.
14 citationstop 4% - GenomicsGenomics Proteomics & BioinformaticsPeer-reviewed
Centromere landscapes resolved from hundreds of human genomes
Shenghan Gao, Yimeng Zhang, Stephen J. Bush…·Kai Ye
The paper analyzes centromere diversity across hundreds of human genomes using HiFi sequencing and a novel HOR annotation pipeline, identifying 23 HORs with significant copy number variation and three centromere genotypes on chromosomes 5, 8, and 17.
5 citations - Cell BiologyCellsPeer-reviewed
Human spermatogonial stem cells retain states with a foetal-like signature
Stephen J. Bush, Rafail Nikola, Seungmin Han…·Anne Goriely
This study identifies a foetal-like state 0B in human spermatogonial stem cells that maintains a suppressive transcriptomic program, contrasting with rodent models where this state is not maintained into adulthood.
- GenomicsGenome biologyPeer-reviewed
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
Peng Jia, Lianhua Dong, Xiaofei Yang…·Kai Ye
This study generates haplotype-resolved assemblies and a variant benchmark for a Chinese monozygotic twin quartet using advanced sequencing and computational methods.
12 citations - GeneticsbioRxivPreprint
The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely
The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.
2 citations - GenomicsNAR Genomics and BioinformaticsPeer-reviewed
Generation and network analysis of an RNA-seq transcriptional atlas for the rat.
KIM M. SUMMERS, Stephen J. Bush, Chunlei Wu, David Arthur Hume
The paper generates a rat RNA-seq transcriptomic atlas and uses gene correlation networks to identify tissue-specific transcript clusters and biological processes.
12 citations - Developmental BiologyPLoS GeneticsPeer-reviewed
CSF1R-dependent macrophages control postnatal somatic growth and organ maturation.
Sahar Keshvari, Melanie Caruso, Ngari Teakle…·David Arthur Hume
This study shows that Csf1r mutation in mice, rats, and humans causes developmental defects, and bone marrow transfer can reverse some phenotypes by restoring macrophages.
- BioinformaticsMicrobial GenomicsPeer-reviewed
Read trimming has minimal effect on bacterial SNP calling accuracy
This study evaluates the impact of read trimming on bacterial SNP calling accuracy and finds minimal, statistically insignificant improvements, suggesting trimming adds little value in most cases.
- GenomicsbioRxivPreprint
Gene expression in the cardiovascular system of the domestic sheep (Ovis aries); a new tool to advance our understanding of cardiovascular disease.
Hiu‐Gwen Tsang, Emily L. Clark, Greg Robert Markby…·KIM M. SUMMERS
This study investigates gene expression in sheep cardiovascular tissues to understand vascular calcification, highlighting gene balance and extracellular matrix roles.
2 citations - GenomicsbioRxivPreprint
Genetic control of Campylobacter colonisation in broiler chickens: genomic and transcriptomic characterisation
Androniki Psifidi, Andreas Kranis, Lisa M. Rothwell…·Mark P. Stevens
This study identifies genetic loci and gene expression patterns associated with Campylobacter resistance in broiler chickens, providing insights for breeding programs.
- BioinformaticsGigaSciencePeer-reviewed
Genomic diversity affects the accuracy of bacterial SNP calling pipelines
Stephen J. Bush, Dona Foster, David W. Eyre…·Ann Sarah Walker
This study evaluates SNP calling pipelines' performance on bacterial data, finding that reference genome selection strongly impacts accuracy, with Snippy performing consistently well across diverse genomes.
141 citationstop 2% - BioinformaticsbioRxivPreprint
Phenotypically distinct human sequence is widespread in publicly archived microbial reads: an evaluation of methods for its detection
Stephen J. Bush, Thomas R. Connor, Tim Peto…·Ann Sarah Walker
The paper evaluates methods for detecting human contamination in microbial sequencing data and finds that classification-based methods are most effective, though combining methods improves accuracy for short reads.
DOI 10.1101/857508 - GeneticsPLoS ONEPeer-reviewed
Genomic analyses underpin the feasibility of concomitant genetic improvement of milk yield and mastitis resistance in dairy sheep
Georgios Banos, Emily L. Clark, Stephen J. Bush…·Androniki Psifidi
The paper assesses the feasibility of improving milk yield and mastitis resistance in dairy sheep through genomic analysis, finding no significant genetic correlation between the traits.
14 citations - GenomicsFrontiers in GeneticsPeer-reviewed
Elimination of reference mapping bias reveals robust immune related allele-specific expression in cross-bred sheep
Mazdak Salavati, Stephen J. Bush, Sergio Palma-Vera…·Emily L. Clark
This study develops an unbiased pipeline for allele-specific expression analysis in sheep, revealing pervasive and tissue-specific allelic imbalance across genes and SNVs.
32 citations - GenomicsbioRxivPreprint
A mini-atlas of gene expression for the domestic goat (Capra hircus) reveals transcriptional differences in immune signatures between sheep and goats
Charity Muriuki, Stephen J. Bush, Mazdak Salavati…·Emily L. Clark
The paper creates a gene expression atlas for goats, identifying transcriptional differences in immune signatures compared to sheep.
3 citations - GeneticsG3 Genes Genomes GeneticsPeer-reviewed
Arginine to glutamine mutation in olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed.
Carys Pugh, Lindsay L. Farrell, Ailsa J Carlisle…·KIM M. SUMMERS
The paper identifies a missense variant in OLFML3 as a candidate for severe goniodysgenesis and glaucoma in Border Collies.
- GenomicsG3 Genes Genomes GeneticsPeer-reviewed
Comprehensive transcriptional profiling of the gastrointestinal tract of ruminants from birth to adulthood reveals strong developmental stage specific gene expression
Stephen J. Bush, Mary E. B. McCulloch, Charity Muriuki…·Emily L. Clark
This study characterizes gene expression changes in the gastrointestinal tract of sheep from birth to adulthood, identifying developmental stage-specific differences, particularly in the rumen complex and immune-related genes.
27 citations - GenomicsBMC GenomicsPeer-reviewed
Combination of novel and public RNA-seq datasets to generate an mRNA expression atlas for the domestic chicken
Stephen J. Bush, Lucy J. Freem, Amanda J. MacCallum…·David Arthur Hume
The paper integrates public and new RNA-seq data to create a chicken mRNA expression atlas, revealing tissue-specific gene clusters and developmental patterns.
39 citations - GenomicsbioRxivPreprint
Characterisation of the UK honey bee (Apis mellifera) metagenome.
Tim W. Regan, Mark W. Barnett, Dominik R. Laetsch…·Tom C. Freeman
The paper characterizes the metagenome of UK honey bee colonies, identifying microbial diversity and potential pathogens in their microbiota.
3 citations - Molecular BiologyBehavioural Brain ResearchPeer-reviewed
Environmentally enriched pigs have transcriptional profiles consistent with neuroprotective effects and reduced microglial activity
Sarah M. Brown, Stephen J. Bush, KIM M. SUMMERS…·Alistair B Lawrence
This study shows that environmental enrichment in pigs increases neuronal activity and synaptic plasticity genes while reducing microglial activity, similar to findings in rodents.
24 citations - GenomicsGenetics Selection EvolutionPeer-reviewed
Assembly and validation of conserved long non-coding RNAs in the ruminant transcriptome
Stephen J. Bush, Charity Muriuki, Mary E. B. McCulloch…·David Arthur Hume
The paper identifies a consensus set of ruminant lncRNAs by combining cross-species RNA-seq data and positional conservation, showing that stochastic sampling can be mitigated through this approach.
34 citations - ImmunologybioRxivPreprint
Characterisation of subpopulations of chicken mononuclear phagocytes that express TIM4 and the macrophage colony-stimulating factor receptor (CSF1R)
Tuanjun Hu, Zhiguang wu, Stephen J. Bush…·Pete Kaiser
This study identifies TIM4-expressing mononuclear phagocytes in chickens, distinguishing phagocytic Kupffer cells from non-phagocytic DC-like cells using CSF1R reporters.
DOI 10.1101/294504 - GenomicsPLoS GeneticsPeer-reviewed
A High Resolution Atlas Of Gene Expression In The Domestic Sheep (Ovis aries)
Emily L. Clark, Stephen J. Bush, Mary E. B. McCulloch…·David Arthur Hume
This paper presents a high-resolution gene expression atlas for sheep, identifying transcriptional signatures and functional annotations across tissues and developmental stages.
175 citationstop 1%