Author
Universidad Pública de Navarra (UPNA)ORCID 0000-0001-5111-310XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Alberto Maillo, Estefania Huergo, María Apellániz-Ruiz…·David Gómez-Cabrero
The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.
Daniel López-López, Carlos Loucera, Rosario Carmona…·Joaquı́n Dopazo
SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.
Lisa Redford, Ghanim Alhilal, Stephanie J. Needham…·John Burn
The paper introduces a panel of short mononucleotide repeats for MSI testing, showing high concordance with traditional methods and potential for scalable, cost-effective tumor classification.