Author
Barcelona Institute of Science and TechnologyORCID 0000-0001-7893-2404Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro
The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.
Ieva Keraite, Philipp Becker, Davide Canevazzi…·Ivo Glynne Gut
This paper introduces a method to sequence full-length human mitochondrial genomes using Cas9 and long-read sequencing, enabling accurate detection of heteroplasmy and deletion patterns.
Nathan D. Olson, Justin Wagner, Jennifer McDaniel…·Justin M. Zook
The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.
Emilio Mármol‐Sánchez, María Gracia Luigi‐Sierra, Anna Castelló…·Marcel Amills
The paper identifies miRNA SNPs in pigs and associates them with lipid traits and gene expression, finding a significant SNP in the apical loop of ssc-miR-326 linked to PPP1CC mRNA levels.