Cathie L. M. Sudlow

The Ethnic/Racial Variations of Intracerebral Hemorrhage Genetics (ERICH-GENE) Study Protocol

ERICH-GENE collects and analyzes genomic and neuroimaging data from over 10,000 multi-ethnic ICH cases to identify genetic risk factors and trans-ethnic variation in ICH.

Data Resource Profile: Whole Blood DNA Methylation Resource in Generation Scotland (MeGS)

The paper describes a large DNA methylation dataset from the Generation Scotland cohort, providing methylation profiles and associated phenotypes for research purposes.

Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides epidemiologically informative biomarkers.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

Refining epigenetic prediction of chronological and biological age

The paper refines epigenetic predictors of chronological and biological age using large-scale EWAS and external validation, improving cAge prediction and outperforming existing bAge predictors.

Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome sequencing data

The paper examines rare variants in monogenic cerebral small vessel disease genes in UK Biobank participants, finding limited phenotype associations and suggesting issues with previous gene-phenotype links.

Whole-exome sequencing in 16,511 individuals reveals a role of the HTRA1 protease and its substrate EGFL8 in brain white matter hyperintensities

The paper identifies rare variants in HTRA1 and its substrate EGFL8 associated with increased white matter hyperintensities using whole-exome sequencing data from 16,511 UK Biobank individuals.

The Subtype Specificity of Genetic Loci Associated with Stroke in 16,664 cases and 32,792 controls

The paper identifies subtype-specific genetic loci associated with stroke subtypes and finds heterogeneity in their effects across different stroke types.

Analyzing the heterogeneity of rule-based EHR phenotyping algorithms in CALIBER and the UK Biobank

This study analyzes 70 EHR phenotyping algorithms from CALIBER and UK Biobank to understand their heterogeneity and identify common implementation patterns for developing a minimum information standard.

Hierarchical Complexity of the Adult Human Structural Connectome

This paper assesses the hierarchical complexity of human structural connectomes, finding that middle-tier nodes exhibit the highest complexity and align with known functional brain organization.