Nathan G. Skene

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 42 publications

Using GPT-4 to annotate the severity of all phenotypic abnormalities within the human phenotype ontology.

Using GPT-4 to annotate the severity of all phenotypic abnormalities within the human phenotype ontology.

Journal: Frontiers in digital health

Published: January 24, 2026

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.

Journal: Genome medicine

Published: August 22, 2025

MotifPeeker: benchmarking epigenomic profiling methods using motifs.

MotifPeeker: benchmarking epigenomic profiling methods using motifs.

Journal: Bioinformatics advances

Published: July 08, 2025

Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson's Disease.

Enzyme Activity-Based Genome-wide Screening for Modifiers of Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors for Parkinson's Disease.

Journal: ACS central science

Published: February 06, 2025

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.

Journal: bioRxiv : the preprint server for biology

Published: January 27, 2025

Gene expression dynamics of human and mouse craniofacial development at the single-cell level.

Gene expression dynamics of human and mouse craniofacial development at the single-cell level.

Journal: Nature communications

Published: January 23, 2025

Single-cell mRNA-regulation analysis reveals cell type-specific mechanisms of type 2 diabetes.

Single-cell mRNA-regulation analysis reveals cell type-specific mechanisms of type 2 diabetes.

Journal: Nature communications

Published: May 14, 2024

Predicting gene expression from histone marks using chromatin deep learning models depends on histone mark function, regulatory distance and cellular states.

Predicting gene expression from histone marks using chromatin deep learning models depends on histone mark function, regulatory distance and cellular states.

Journal: Nucleic acids research

Published: March 29, 2024

Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.

Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.

Journal: Nature communications

Published: March 20, 2024

Avoiding false discoveries in single-cell RNA-seq by revisiting the first Alzheimer's disease dataset.

Avoiding false discoveries in single-cell RNA-seq by revisiting the first Alzheimer's disease dataset.

Journal: eLife

Published: December 04, 2023

Artificial intelligence for dementia genetics and omics.

Artificial intelligence for dementia genetics and omics.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

Published: April 05, 2023

rworkflows: automating reproducible practices for the R community.

rworkflows: automating reproducible practices for the R community.

Journal: Nature communications

Published: January 10, 2023

Showing 1-12 of 42

Last Updated: 09/26/2026