Xavier Estivill

Identification of blood autosomal cis-expression quantitative trait methylation (cis-eQTMs) in children

This paper identifies 39,749 autosomal cis-eQTMs in children's blood using HELIX data, showing most are near genes and many have genetic variants associated with methylation and expression.

Efficient and Flexible Integration of Variant Characteristics in Rare Variant Association Studies Using Integrated Nested Laplace Approximation

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.

Genetic Identification of Cell Types Underlying Brain Complex Traits Yields Novel Insights Into the Etiology of Parkinson's Disease

This study identifies cell types associated with brain complex traits using GWAS and single-cell transcriptomics, revealing novel roles for oligodendrocytes in Parkinson's disease.

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

The paper estimates genetic correlations between eating disorder and substance-use-related phenotypes using GWAS data, finding both positive and negative associations.

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.

Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas.

The paper identifies novel long non-coding RNAs and circular RNAs in hematopoietic cells using BLUEPRINT consortium data, highlighting their cell type specificity.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

This study identifies genetic loci associated with early childhood growth phenotypes and links them to later adiposity traits, suggesting potential targets for obesity prevention.

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

This study introduces a Bayesian model to identify cancer driver genes by integrating evolutionary signatures, revealing novel gene-tumor type associations and highlighting chromatin modifiers as key targets.