Mike Thompson

FastGxC: Fast and Powerful Context-Specific eQTL Mapping in Bulk and Single-Cell Data

FastGxC efficiently maps context-specific eQTLs in bulk and single-cell RNA-seq data, improving power and speed while enhancing biological relevance and trait association precision.

A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies

This study identifies splice-switching antisense oligonucleotides that correct splicing defects in SCN8A, reducing seizures and improving survival in a mouse model of genetic epilepsy.

Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing

The paper uses deep learning to predict splicing regulatory effects and identify effective antisense oligonucleotides by analyzing systematic deletion scans of human exons.

Characterizing the genetic architecture of drug response using gene-context interaction methods

This study quantifies the heritability of drug response to statins, metformin, warfarin, and methotrexate in UK Biobank participants and identifies genetic modifiers of drug effects and side effects.

Methylation risk scores are associated with a collection of phenotypes within electronic health record systems

This study evaluates methylation risk scores (MRS) in clinical datasets, showing they improve EHR imputation and predict phenotypes better than polygenic risk scores or EHR-based methods alone.