Author
Centro de Investigacion Principe Felipe
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Lorena de la Fuente, Marta Del Pozo‐Valero, Irene Perea‐Romero…·Pablo Mínguez
The paper develops GLOWgenes, a disease-aware network-based algorithm to prioritize new candidate genes for rare genetic diseases by evaluating heterogeneous molecular networks.
Ionut-Florin Iancu, Irene Perea‐Romero, Gonzalo Núñez‐Moreno…·Pablo Mínguez
The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.
Lorena de la Fuente, Ángeles Arzalluz-Luque, Manuel Tardáguila…·Ana Conesa
The paper introduces tappAS, a framework for analyzing the functional impact of differential splicing, showing AltTP plays a major role in neural development by altering protein function and regulation.
Manuel Tardáguila, Lorena de la Fuente, Cristina Martí…·Ana Conesa
SQANTI characterizes long-read transcript sequences to assess quality and improve quantification of full-length transcriptomes.