Alan Murphy
Research Vision & Impact
I aim to uncover the cis-regulatory code — the rules by which DNA sequence dictates gene regulation — by developing interpretable, generalisable sequence-to-function (seq2func) models. My work integrates computational modeling and experimental perturbations, including functional assays, to systematically probe how regulatory sequences control cellular phenotypes.
Key goals of my research include:
- Building models that generalise across cell types and experimental contexts, enabling predictive insights beyond the training data.
- Improving interpretability, so that computational predictions reveal mechanistic principles of gene regulation.
- Developing open-access tools and resources to promote reproducibility and empower the genomics community.
Through this approach, I seek to bridge predictive modeling with mechanistic understanding, advancing both fundamental insights into gene regulation and the methodological foundations of regulatory genomics.
News
- 2026-02-20
Published a blog post on fine-tuning AlphaGenome for MPRA and STARR-seq data on the Genomics x AI blog, highlighting the approach of treating sequence-to-function models as modular regulatory encoders leading to state-of-the-art results across perturbation assays.
- 2025-10-10
Presented our work on causal refinement for genomic deep learning models through continual learning at MLCB 2025. Check out the talk on the MLCB YouTube channel.
- 2025-03-03
Joined Peter Koo’s group at Cold Spring Harbor Laboratory, New York to develop methods to improve genomic sequence-to-function and genomic language models.
- 2024-12-11
Our ChromExpress paper investigating the relationship of histone marks with expression using deep learning is out in Nucleic Acids Research (NAR)! See a quick overview on X/Twitter.
- 2024-11-16
Our Enformer Celltyping paper, a genomic DNN to accurately predict epigenetic signals in previously unseen cell types, is out in Nature Communications! See more on Twitter or on BlueSky.
- 2023-12-04
Our re-analysis paper of the first single-cell RNA-seq Alzheimer’s disease dataset is out in eLife! Check out an overview here.
- 2023-09-25
Presented my PhD work predicting the cell type-specific effects of genetic variants on the epigenome at the Kipoi Summit for computational regulatory genomics.
- 2023-07-29
Presented a session on single-cell genomics for Alzheimer’s disease as part of ADDI’s Summer Learning Series.
- 2022-12-22
Our paper benchmarking differential expression methods for single-cell RNA-seq is out in Nature Communications! Check out our overview here.
- 2021-10-02
MungeSumstats, our software for rapid standardisation and quality control of GWAS or QTL summary statistics, is now out in Bioinformatics.
- 2021-07-19
Thrilled to officially start my PhD with Dr. Nathan Skene’s group in the Department of Brain Sciences, Imperial College London as part of the UK DRI.
Selected Publications
This is a selection of recent work. For a complete and always up-to-date list, see my Google Scholar profile.
MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics
Murphy, A. E., Schilder, B. M. & Skene, N. G. Bioinformatics 37, 4593–4596 (2021)
A balanced measure shows superior performance of pseudobulk methods in single-cell RNA-sequencing analysis
Murphy, A. E. & Skene, N. G. Nat. Commun. 37, 7851 (2022)
Avoiding false discoveries in single-cell RNA-seq by revisiting the first Alzheimers disease dataset
Murphy, A. E., Fancy, N. & Skene, N. G. eLife 12:RP90214 (2023)
Predicting cell type-specific epigenomic profiles accounting for distal genetic effects
Murphy, A.E., Beardall, W., Rei, M. et al. Nat. Commun. 15, 9951 (2024)
Predicting gene expression from histone marks using chromatin deep learning models depends on histone mark function, regulatory distance and cellular states
Murphy, A.E., Askarova,A. , Lenhard, B. et al. Nucleic Acids Research, gkae1212, (2024).
