Helena Fernández

PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.

M. Couce, Joan Maynou, L. Palacios, 2020, Genomics.

Free-access copy-number variant detection tools for targeted next-generation sequencing data.

Lorena González-Castro, Iria Roca, Helena Fernández, 2019, Mutation research.