Diego Garrido-Martín

Regulatory landscape of widespread stop codon readthrough in Drosophila

The paper identifies 1,400 stop codon readthrough genes in Drosophila, reveals sequence features associated with programmed readthrough, and shows conserved cis-elements functional in mammalian cells.

Single-cell atlas of transcript usage remodelling in antiviral immune responses across human populations

The paper creates a single-cell atlas of transcript usage changes during antiviral immune responses in humans, showing lineage-specific and ancestry-related variations across influenza and SARS-CoV-2 infections.

Evidence of distal regulations orchestrated by RNAs initiating at short tandem repeats

The paper identifies RNA-initiating sites at STRs and links them to gene expression, revealing regulatory roles and interactions with Alu repeats.

Potentially causal associations between placental DNA methylation and schizophrenia and other neuropsychiatric disorders

The paper identifies placental DNA methylation (DNAm) as a potential mediator of genetic risk for schizophrenia, bipolar disorder, and major depressive disorder using mQTL and GWAS data.

Digital phenotyping from wearables using AI characterizes psychiatric disorders and identifies genetic associations

This paper uses wearable data and AI to identify genetic associations with psychiatric disorders by creating intermediate phenotypes from continuous physiological features.

Single-cell genomics and regulatory networks for 388 human brains

The paper processes single-nuclei multi-omics data from 388 human brains to identify regulatory elements and build cell-type networks, revealing changes in aging and neuropsychiatric disorders.

Compositional structural brain signatures capture Alzheimer's genetic risk on brain structure along the disease continuum

The paper identifies brain structure signatures linked to Alzheimer's genetic risk across disease stages using compositional data analysis.

A fast non-parametric test of association for multiple traits

The paper introduces a fast non-parametric test for genetic associations with multiple traits, demonstrating its effectiveness in splicing QTL mapping and hippocampal subfield GWAS.

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

The paper identifies and analyzes splicing quantitative trait loci (sQTLs) across multiple tissues using the GTEx dataset, revealing their role in splicing regulation and disease.

A vast resource of allelic expression data spanning human tissues

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

Cell type specific genetic regulation of gene expression across human tissues

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

Determinants of telomere length across human tissues

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

A Quantitative Proteome Map of the Human Body

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

A limited set of transcriptional programs define major cell types

The paper identifies five major cell types based on transcriptional programs in human tissues and shows their composition correlates with tissue morphology and disease.

Functional Annotation of Human Long Non-Coding RNAs via Molecular Phenotyping

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.