Diogo M. Ribeiro

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications

The paper uses EHRs and biobanks to identify pharmacogenetic associations with drug response in cardiometabolic diseases, finding novel genetic predictors for personalized treatment.

Non-coding rare variant associations with blood traits on 166,740 UK Biobank genomes

This study identifies non-coding rare variant associations with blood traits in 166,740 UK Biobank genomes but finds most associations are driven by linkage disequilibrium with common variants.

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

This paper introduces SHAPEIT5, a phasing method that accurately phases rare variants in UK Biobank WGS and WES data, improving imputation accuracy and identifying gene essentiality through compound heterozygous events.

Widespread enhancer co-activity identified by multimodal single cell analysis

The paper identifies widespread enhancer co-activity in human lymphoblastoid cells using scATAC-seq and scRNA-seq, revealing correlations between enhancer activity and gene expression.

Parent-of-origin effects in the UK Biobank

The paper infers parent-of-origin effects in the UK Biobank using a novel probabilistic method, identifying 101 significant associations across 59 biomarkers and 38 phenotypes.

Shared regulation and functional relevance of local gene co-expression revealed by single cell analysis

The paper uses single-cell data to analyze local gene co-expression, showing that many co-expressed gene pairs share regulatory elements and functionally related genes.

Genetic variation in correlated regulatory region of Immunity

The paper identifies regulatory domains in immune cells using genomic and epigenomic data, revealing cell-type specific gene regulation and genetic control of regulatory elements.

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

This paper introduces revTWMR, a method to determine causal relationships between gene expression and complex traits, finding that traits more strongly influence gene expression than vice versa.

The molecular basis, genetic control and pleiotropic effects of local gene co-expression

The paper identifies local gene co-expression patterns across human tissues and links them to eQTLs associated with multiple traits.

Efficient phasing and imputation of low-coverage sequencing data using large reference panels

This study introduces GLIMPSE, a method for efficient phasing and imputation of low-coverage sequencing data, showing improved accuracy and cost-effectiveness compared to existing methods.

The role of 3’UTR-protein complexes in the regulation of protein multifunctionality and subcellular localization

The paper investigates 3’UTR-protein complexes in human multifunctional proteins, finding they regulate localization and multifunctionality by enabling diverse interactions.

Comparative genomics of the major parasitic worms

This paper compares genomes of 81 nematode and platyhelminth species to identify gene families related to parasitism and prioritize new drug targets.