Aurora Pujol

HERVs as building blocks of RNA regulatory architecture in the human genome

This study identifies HERV sequences as pervasive components of RNA regulatory architecture in the human transcriptome, revealing their roles in RNA processing and gene regulation.

Regulatory Features and Functional Specialization of Human Endogenous Retroviral LTRs: A Genome-Wide Annotation and Analysis via HERVarium

The paper introduces HERVarium, a database annotating human endogenous retroviral LTRs and their regulatory features, revealing structural and functional patterns across the genome.

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses

The paper annotates conserved protein domains in human endogenous retroviruses using HMMER and InterProScan, revealing full-length retrovirus-like domains in multiple HERV families.

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

Novel risk loci for COVID-19 hospitalization among admixed American populations

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.

The paper identifies shorter androgen receptor polyQ alleles as protective against severe COVID-19 in males using machine learning on whole-exome sequencing data from the GEN-COVID cohort.

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males

The paper identifies rare TLR7 variants associated with severe COVID-19 in young males, suggesting a genetic basis for disease susceptibility.