Sarah Cooper

The paper uses single-cell transcriptomics and phenotypic analysis of gene knockouts in hiPSC-derived neurons and astrocytes to identify cell-type specific and shared mechanisms of Alzheimer's disease risk genes.

This study links single-cell transcriptomes to genotypes to assess the functional impact of single nucleotide variants, classifying missense variants into three categories.

The paper introduces GenIE-ATAC, a medium-throughput method to screen regulatory variants' effects on chromatin accessibility, validating causal variants and extending analysis tools.

Meta-analysing UK Biobank family-history GWAS with diagnosed-AD GWAS yields 37 loci, four novel (NCK2, TSPAN14, SPRED2, CCDC6); fine-mapping, colocalisation and network scoring prioritize causal genes.