Lucía Peña-Pérez is a bioinformatician for Karolinska University Hospital and Scilifelab. She has a background in engineering and biomedicine. Over a year ago Lucía completed their doctoral studies at Karolinska Institutes, during which she analysed omics data particularly RNAseq, ATACseq, and lrWGS. Now she is part of the rare-disease development team in Clinical Genomics and is using Nextflow to build pipelines to analyse WGS and RNAseq data to help in the diagnosis of patients with rare-disease.
Lucía will present a poster titled "Tomte a pipeline for RNA-seq analysis in rare disease diagnostics".