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Recent Publications

• Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
• A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
• Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans.
• Characterization of the Common Genetic Variation in the Spanish Population of Navarre.
• Mutational landscape of risk variants in comorbid depression and obesity: a next-generation sequencing approach.
• Aripiprazole as protector against COVID-19 mortality.

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Recent content

Highly sensitive and ultrafast read mapping for RNA-seq analysis. iguillen
Integrated gene set analysis for microRNA studies. iguillen
Web-based network analysis and visualization using CellMaps. iguillen
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. iguillen
Dysfunctional mitochondrial fission impairs cell reprogramming. iguillen
High throughput estimation of functional cell activities reveals disease mechanisms and predicts relevant clinical outcomes. iguillen
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. iguillen
ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data. iguillen
Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial. iguillen
Differential metabolic activity and discovery of therapeutic targets using summarized metabolic pathway models. iguillen