Article
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
Database : the journal of biological databases and curation - 4 Jul 2024
Moreno-Cabrera José M, Feliubadaló Lidia, Pineda Marta, Prada-Dacasa Patricia, Ramos-Muntada Mireia, Del Valle Jesús, Brunet Joan, Gel Bernat, Currás-Freixes María, Calsina Bruna, Salazar-Hidalgo Milton E, Rodríguez-Balada Marta, Roig Bàrbara, Fernández-Castillejo Sara, Durán Domínguez Mercedes, Arranz Ledo Mónica, Infante Sanz Mar, Castillejo Adela, Dámaso Estela, Soto José L, de Miguel Montserrat, Hidalgo Calero Beatriz, Sánchez-Zapardiel José M, Ramon Y Cajal Teresa, Lasa Adriana, Gisbert-Beamud Alexandra, López-Novo Anael, Ruiz-Ponte Clara, Potrony Miriam, Álvarez-Mora María I, Osorio Ana, Lorda-Sánchez Isabel, Robledo Mercedes, Cascón Alberto, Ruiz Anna, Spataro Nino, Hernan Imma, Borràs Emma, Moles-Fernández Alejandro, Earl Julie, Cadiñanos Juan, Sánchez-Heras Ana B, Bigas Anna, Capellá Gabriel, Lázaro Conxi
Abstract excerpt
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population. SpadaHC is implemented using a three-tier...
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