David Torrents

Multimodal data analysis reveals asynchronous aging dynamics across female reproductive organs

The paper integrates histological and RNA-seq data to show asynchronous aging dynamics across female reproductive organs, with menopause marking a key transition in the uterus and vagina.

Anonymized Somatic Tumor Twins (STTs) enable open genome data sharing and use in research and clinical oncology

The paper introduces GenomeAnonymizer, a method to anonymize tumor-normal DNA sequences, creating STTs that preserve somatic variants and enable open research while protecting privacy.

A transposase-derived gene required for human brain development

This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.

Genetic Profiling and Early Detection of Type 2 Diabetes Subtypes through Sex-Stratified GWAS and Explainable AI

This study uses sex-stratified GWAS and explainable AI to identify 184 genes associated with T2D subtypes and improve risk detection.

Genetic regulation of RNA splicing in human pancreatic islets

The paper identifies splicing QTLs in human pancreatic islets that contribute to type 2 diabetes susceptibility by affecting gene splicing and revealing novel molecular mechanisms.

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

The paper generates a comprehensive haplotype map of the Iberian population using high-coverage whole-genome sequencing, focusing on structural variants and their imputation capabilities.

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

The paper creates TIGER, a resource integrating RNA-seq and genotyping data from human pancreatic islets to identify eQTLs and their associations with type 2 diabetes.

The impact of non-additive genetic associations on age-related complex diseases.

This study applies an improved GWAS strategy to age-related diseases, identifying new genetic loci by using multiple reference panels, analyzing the X chromosome, and testing non-additive models.

Genomic footprints of activated telomere maintenance mechanisms in cancer

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

Spatial Genome Organization as a Framework for Somatic Alterations in Human Cancer

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

Polymorphic inversions underlie the shared genetic susceptibility to prevalent common diseases

The paper identifies common polymorphic inversions associated with multiple common diseases and suggests their role in shared genetic susceptibility.

Human pancreatic islet 3D chromatin architecture provides insights into the genetics of type 2 diabetes

The paper links diabetes-associated enhancers with their target genes using 3D chromatin architecture in human pancreatic islets, revealing genetic variants that impact insulin secretion heritability.

Pan-cancer analysis of whole genomes reveals driver rearrangements promoted by LINE-1 retrotransposition in human tumours

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

A Comprehensive Reanalysis Of Publicly Available GWAS Datasets Reveals An X Chromosome Rare Regulatory Variant Associated With High Risk For Type 2 Diabetes.

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

Comparative analysis of neutrophil and monocyte epigenomes

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.

Large-Scale Uniform Analysis of Cancer Whole Genomes in Multiple Computing Environments

The paper describes the PCAWG project's large-scale analysis of cancer whole genomes across multiple computing environments, producing validated consensus variants for downstream research.