Anna Esteve‐Codina

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

This study identifies Pdk1-high metabolic cancer cells in colorectal tumors that drive aggressive behavior through interferon signaling.

This study examines how hypergravity and immune challenge interact in zebrafish larvae, finding that hypergravity alone has minimal transcriptomic impact but combined with LPS causes significant gene expression changes.

This study identifies PI3K signaling as a key driver of inflammatory tumor-macrophage communication in mesenchymal glioblastoma, showing its role in vascular remodeling and immune evasion.

ASMS detects allele-specific methylation without phasing by analyzing methylation data directly, offering a faster approach for studying gene regulation and imprinting.

The paper identifies ZC3H12C as a mediator of CAR-T cell dysfunction in solid tumors through an in vivo CRISPR screen and validates its role using single-cell RNA and ATAC-seq.

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.

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

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

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

This study uses scRNA-seq to analyze immune cell changes in porcine ileum during Salmonella Typhimurium infection, revealing altered cell composition and immunometabolic responses.

This study shows TRIP13 is involved in transcription suppression and DSB repair during meiosis, with distinct roles in spermatocytes and oocytes.

The paper identifies gene expression changes in the vestibular sensory epithelium during chronic ototoxicity, finding early downregulation of HC-specific genes and upregulation of stress mediators across species and compounds.

The paper profiles the translatome of dorsal striatum PV interneurons, identifying molecular signatures and gene expression changes linked to psychostimulant exposure and reward behaviors.

This study reveals contamination issues in public cell atlases due to suboptimal quality filtering and advocates for more rigorous quality control using intronic fraction or MALAT1 expression.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study sequenced the Draparnaldia genome and transcriptomes, revealing expanded gene families linked to multicellularity and terrestrial adaptations, and its ability to synthesize phytohormones used by land plants.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This study uses human iPSC-derived neuronal networks to show that homeostatic plasticity involves network re-arrangement, increased excitability, and changes in gene expression related to extracellular matrix and cell communication.

This study identifies a SMAD1/5-YAP signaling module that regulates radial glia self-amplification and cortical growth during development.

The paper assembles and annotates the larval transcriptomes of two spadefoot toads with divergent developmental rates to study adaptations to different aquatic habitats.

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