Andrew Roger Bassett

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.

SELECT-seq enables rapid, scalable SNP-specific enrichment of single cells for genotype-phenotype analysis without cloning.

Saturation-seq combines genome editing and single-cell RNA-seq to quantify variant effects on NFE2L2, accurately distinguishing pathogenic from benign variants.

This study optimizes Xenium in situ sequencing for PAXgene-fixed tissues, showing comparable or better spatial RNA detection than FFPE samples.

The paper validates an Alzheimer's disease-associated SNP in PTK2B that alters microglial function through changes in chromatin accessibility and gene expression.

The paper introduces a next-generation dual guide CRISPR system for efficient genetic interaction screening, achieving low undesired guide pairs and balanced expression, and demonstrates its application in colorectal cancer cells.

The paper integrates QTL mapping and CRISPR screening in iPSC-derived microglia to identify genetic drivers of neurodegenerative risk by linking variants to phenotypes and gene expression.

ONE-STEP tagging enables rapid, efficient, and scalable protein tagging in diverse cell types through CRISPR-Cas9 and Bxb1 integrase, with high integration efficiency and multiplexing capabilities.

The paper presents a genome-scale CRISPRi perturbation map in human pluripotent stem cells using single-cell RNA sequencing to study trans gene regulation across diverse genetic backgrounds.

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.

The paper analyzes genomic variation in hiPSCs derived from skin and blood, finding high mutation rates in fibroblast-derived lines and frequent BCOR mutations in blood-derived lines.

The paper generates a molecular map of human in vitro myelopoiesis from iPSC to macrophages, revealing conserved regulatory networks and new myeloid progenitors.

This study shows RAD51 protects under-replicated DNA in mitotic human cells, promoting DNA synthesis and chromosome segregation.

This study shows that GANP deficiency in human motor neurons disrupts gene regulation and RNA metabolism, affecting nearly 40% of expressed genes and splicing patterns.

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.

The paper introduces a two-stage COVID-19 testing strategy combining point-of-care diagnosis with centralised high-throughput sequencing to enable population-scale testing.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.