Summary:
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 architecture consisting of a relational database, a web tool and a bioinformatics pipeline....
Link:
https://pubmed.ncbi.nlm.nih.gov/38965703/?utm_source=Other&utm_medium=rss&utm_campaign=journals&utm_content=101517697&fc=None&ff=20250107030234&v=2.18.0.post9+e462414
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Database (Oxford)
Tags:
Authors:
José M Moreno-Cabrera, Lidia Feliubadaló, Marta Pineda, Patricia Prada-Dacasa, Mireia Ramos-Muntada, Jesús Del Valle, Joan Brunet, Bernat Gel, María Currás-Freixes, Bruna Calsina, Milton E Salazar-Hidalgo, Marta Rodríguez-Balada, Bàrbara Roig, Sara Fernández-Castillejo, Mercedes Durán Domínguez, Mónica Arranz Ledo, Mar Infante Sanz, Adela Castillejo, Estela Dámaso, José L Soto, Montserrat de Miguel, Beatriz Hidalgo Calero, José M Sánchez-Zapardiel, Teresa Ramon Y Cajal, Adriana Lasa, Alexandra Gisbert-Beamud, Anael López-Novo, Clara Ruiz-Ponte, Miriam Potrony, María I Álvarez-Mora, Ana Osorio, Isabel Lorda-Sánchez, Mercedes Robledo, Alberto Cascón, Anna Ruiz, Nino Spataro, Imma Hernan, Emma Borràs, Alejandro Moles-Fernández, Julie Earl, Juan Cadiñanos, Ana B Sánchez-Heras, Anna Bigas, Gabriel Capellá, Conxi Lázaro
Date tagged:
01/07/2025, 03:07
Date published:
07/05/2024, 06:00