CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2021

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

por Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Brunet, Joan, Serra, Eduard, Capellà, Gabriel, Lázaro, Conxi, Gel, Bernat
Publicado 2020

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

por Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Publicado 2023

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

por del Valle, Jesús, Rofes, Paula, Moreno-Cabrera, José Marcos, López-Dóriga, Adriana, Belhadj, Sami, Vargas-Parra, Gardenia, Teulé, Àlex, Cuesta, Raquel, Muñoz, Xavier, Campos, Olga, Salinas, Mónica, de Cid, Rafael, Brunet, Joan, González, Sara, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lídia, Lázaro, Conxi
Publicado 2020

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

por Rofes, Paula, Del Valle, Jesús, Torres-Esquius, Sara, Feliubadaló, Lídia, Stradella, Agostina, Moreno-Cabrera, José Marcos, López-Doriga, Adriana, Munté, Elisabet, De Cid, Rafael, Campos, Olga, Cuesta, Raquel, Teulé, Álex, Grau, Èlia, Sanz, Judit, Capellá, Gabriel, Díez, Orland, Brunet, Joan, Balmaña, Judith, Lázaro, Conxi
Publicado 2021