Elena Buena‐Atienza

MethylBench benchmarks DNA methylation profiling methods across sequencing platforms, finding consistent DMC hotspots and highlighting platform-specific strengths and limitations.

This paper presents a Nanopore-only workflow for diploid T2T genome assembly and haplotype-resolved 3D chromatin maps, achieving high accuracy without hybrid polishing.

This study uses long-read RNA sequencing to analyze transcript diversity and regulation in human fibroblasts, induced pluripotent stem cells, and cortical neurons, revealing transcript-specific changes in disease-related genes.

This study uses ultra-deep metagenomic sequencing to analyze soil microbes, revealing extensive microbial diversity and biosynthetic potential previously unexplored.

The paper describes the European Reference Genome Atlas (ERGA) pilot project, which tests a decentralized model for producing high-quality reference genomes across 98 European species.

The paper presents a high-quality genome assembly for the ant Lasius platythorax using long-read sequencing and Hi-C, providing insights into the genomic basis of trait differentiation in ant species.

The paper uses long-read sequencing to accurately identify GBA variants as a major genetic risk factor for Parkinson's disease in a Luxembourg cohort.

The paper introduces WO_SCPCAPENGANC_SCPCAP, a hybrid de novo assembler for human genomes that improves contiguity and quality using long and short reads, achieving results better than the current reference genome.