Michael H. Guo

The paper maps primary and conditional regulatory variation in the human brain using single cell data, showing that conditional signals are more cell type-specific and better colocalize with disease GWAS loci.

The paper identifies 545 expression-modulating variants in CD4+ T cells linked to autoimmune diseases and shows they regulate genes in a lymphocyte activation network.

The paper assesses the role of short tandem repeat (STR) expansions in Alzheimer's disease risk by analyzing genome-wide STR data from 2,981 individuals.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

This study identifies CD4 T and B cells as driver cell subsets in multiple sclerosis using chromatin accessibility data and genetic fine-mapping.

The paper identifies causal genetic variants in autoimmune diseases by combining allele-specific reporter assays with chromatin accessibility data, showing their impact on gene expression and T cell function.

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

This study fine-maps genetic variants associated with blood cell traits and identifies cell types and causal mechanisms using single-cell chromatin accessibility data from the UK Biobank.

The paper estimates carrier rates for 416 genes across 6 ancestries and shows that screening 47 high-carrier-rate genes captures most at-risk couples.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.