Raquel García-Pérez

rDNAcaller: a fast and robust pipeline to call ribosomal DNA variants

The paper introduces rDNAcaller, a pipeline for accurate rDNA variant detection using short-read whole-genome sequencing, achieving 94% precision and identifying 5,607 novel variant positions across human populations.

The molecular impact of cigarette smoking resembles aging across tissues

This study shows that cigarette smoking causes molecular changes in tissues similar to aging, including inflammation, hypomethylation at enhancers, and hypermethylation at Polycomb target regions.

Functional identification of cis-regulatory long noncoding RNAs at controlled false-discovery rates

The paper introduces TransCistor, a framework to identify cis-regulatory lncRNAs with controlled false discovery rates, finding that only a minority of lncRNAs are cis-acting, primarily as activators.

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

In vivo single-cell profiling of lncRNAs during Ebola virus infection

This study profiles lncRNA expression in single cells during Ebola virus infection in vivo, revealing cell-type specific changes and potential roles in immune response and viral hijacking.

Genes Affecting Vocal and Facial Anatomy Went Through Extensive Regulatory Divergence in Modern Humans

The paper identifies extensive methylation changes in genes related to facial and vocal anatomy in modern humans compared to ancient humans and chimpanzees.

A comparison of gene expression and DNA methylation patterns across tissues and species

The paper compares gene expression and DNA methylation across tissues and species in primates, finding that only 7-11% of inter-species expression differences are explained by methylation, with higher explanation in tissue-specific genes.