Author
European Bioinformatics InstituteORCID 0000-0002-0380-7171Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Tamara Perteghella, Gazaldeep Kaur, Sílvia Carbonell Sala…·Roderic Guigó
The paper expands the lncRNA catalog using capture long-read RNA sequencing, significantly increasing the number of annotated transcripts in human and mouse genomes.
Francisco J. Pardo-Palacios, Dingjie Wang, Fairlie Reese…·Angela Norie Brooks
Benchmarking six long-read RNA-seq protocol-platform combinations and 14 tools across human, mouse, and manatee shows read length and accuracy drive isoform detection, depth drives quantification.
Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner…·Adam Frankish
The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.