Topography of mutational signatures in human cancer

por Otlu, Burçak, Díaz-Gay, Marcos, Vermes, Ian, Bergstrom, Erik N., Zhivagui, Maria, Barnes, Mark, Alexandrov, Ludmil B.
Publicado 2023

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

por Díaz-Gay, Marcos, Vila-Casadesús, Maria, Franch-Expósito, Sebastià, Hernández-Illán, Eva, Lozano, Juan José, Castellví-Bel, Sergi
Publicado 2018

Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator

por Khandekar, Azhar, Vangara, Raviteja, Barnes, Mark, Díaz-Gay, Marcos, Abbasi, Ammal, Bergstrom, Erik N., Steele, Christopher D., Pillay, Nischalan, Alexandrov, Ludmil B.
Publicado 2023

CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications

por Franch-Expósito, Sebastià, Bassaganyas, Laia, Vila-Casadesús, Maria, Hernández-Illán, Eva, Esteban-Fabró, Roger, Díaz-Gay, Marcos, Lozano, Juan José, Castells, Antoni, Llovet, Josep Maria, Castellví-Bel, Sergi, Camps, Jordi
Publicado 2020

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers

por Torabi, Keyvan, Erola, Pau, Alvarez‐Mora, Maria Isabel, Díaz‐Gay, Marcos, Ferrer, Queralt, Castells, Antoni, Castellví‐Bel, Sergi, Milà, Montserrat, Lozano, Juan José, Miró, Rosa, Ried, Thomas, Ponsa, Immaculada, Camps, Jordi
Publicado 2018

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment

por Díaz-Gay, Marcos, Vangara, Raviteja, Barnes, Mark, Wang, Xi, Islam, S M Ashiqul, Vermes, Ian, Narasimman, Nithish Bharadhwaj, Yang, Ting, Jiang, Zichen, Moody, Sarah, Senkin, Sergey, Brennan, Paul, Stratton, Michael R, Alexandrov, Ludmil B
Publicado 2023

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers

por Golubicki, Mariano, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Carballido, Marcela, Robbio, Juan, Cisterna, Daniel, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Castellví-Bel, Sergi, Antelo, Marina
Publicado 2021

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

por Bonjoch, Laia, Soares de Lima, Yasmin, Díaz-Gay, Marcos, Dotti, Isabella, Muñoz, Jenifer, Moreira, Leticia, Carballal, Sabela, Ocaña, Teresa, Cuatrecasas, Miriam, Ortiz, Oswaldo, Castells, Antoni, Pellisé, Maria, Balaguer, Francesc, Salas, Azucena, Alexandrov, Ludmil B., Castellví-Bel, Sergi
Publicado 2023

Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer

por Toma, Claudio, Díaz‐Gay, Marcos, Franch‐Expósito, Sebastià, Arnau‐Collell, Coral, Overs, Bronwyn, Muñoz, Jenifer, Bonjoch, Laia, Soares de Lima, Yasmin, Ocaña, Teresa, Cuatrecasas, Miriam, Castells, Antoni, Bujanda, Luis, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Fullerton, Janice M., Castellví‐Bel, Sergi
Publicado 2019

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer

por Herrera-Pariente, Cristina, Capó-García, Roser, Díaz-Gay, Marcos, Carballal, Sabela, Muñoz, Jenifer, Llach, Joan, Sánchez, Ariadna, Bonjoch, Laia, Arnau-Collell, Coral, Soares de Lima, Yasmin, Golubicki, Mariano, Jung, Gerhard, Lozano, Juan José, Castells, Antoni, Balaguer, Francesc, Bujanda, Luis, Castellví-Bel, Sergi, Moreira, Leticia
Publicado 2021

Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing

por Toma, Claudio, Díaz-Gay, Marcos, Soares de Lima, Yasmin, Arnau-Collell, Coral, Franch-Expósito, Sebastià, Muñoz, Jenifer, Overs, Bronwyn, Bonjoch, Laia, Carballal, Sabela, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Rodríguez-Alcalde, Daniel, Fullerton, Janice M., Castellví-Bel, Sergi
Publicado 2019

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

por Golubicki, Mariano, Bonjoch, Laia, Acuña-Ochoa, José G., Díaz-Gay, Marcos, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Cisterna, Daniel, Schubert, Stephanie A., Nielsen, Maartje, van Wezel, Tom, Goldberg, Yael, Pikarsky, Eli, Robbio, Juan, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Antelo, Marina, Castellví-Bel, Sergi
Publicado 2020

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Moreira, Leticia, Ocaña, Teresa, Cuatrecasas, Miriam, Herrera-Pariente, Cristina, Carballal, Sabela, Moreno, Lorena, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2021

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

por Arnau-Collell, Coral, Soares de Lima, Yasmin, Díaz-Gay, Marcos, Muñoz, Jenifer, Carballal, Sabela, Bonjoch, Laia, Moreira, Leticia, Lozano, Juan José, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aranzazu, Castells, Antoni, Capellà, Gabriel, Bujanda, Luis, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Ruiz-Ponte, Clara, Valle, Laura, Moreno, Victor, Castellvi-Bel, Sergi
Publicado 2020

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

por Esteban-Jurado, Clara, Giménez-Zaragoza, David, Muñoz, Jenifer, Franch-Expósito, Sebastià, Álvarez-Barona, Miriam, Ocaña, Teresa, Cuatrecasas, Miriam, Carballal, Sabela, López-Cerón, María, Marti-Solano, Maria, Díaz-Gay, Marcos, van Wezel, Tom, Castells, Antoni, Bujanda, Luis, Balmaña, Judith, Gonzalo, Victoria, Llort, Gemma, Ruiz-Ponte, Clara, Cubiella, Joaquín, Balaguer, Francesc, Aligué, Rosa, Castellví-Bel, Sergi
Publicado 2017

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

por Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Arnau-Collell, Coral, Park, Solip, Supek, Fran, Muñoz, Jenifer, Bonjoch, Laia, Gratacós-Mulleras, Anna, Sánchez-Rojas, Paula A., Esteban-Jurado, Clara, Ocaña, Teresa, Cuatrecasas, Miriam, Vila-Casadesús, Maria, Lozano, Juan José, Parra, Genis, Laurie, Steve, Beltran, Sergi, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Castellví-Bel, Sergi
Publicado 2019

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

por Islam, S.M. Ashiqul, Díaz-Gay, Marcos, Wu, Yang, Barnes, Mark, Vangara, Raviteja, Bergstrom, Erik N., He, Yudou, Vella, Mike, Wang, Jingwei, Teague, Jon W., Clapham, Peter, Moody, Sarah, Senkin, Sergey, Li, Yun Rose, Riva, Laura, Zhang, Tongwu, Gruber, Andreas J., Steele, Christopher D., Otlu, Burçak, Khandekar, Azhar, Abbasi, Ammal, Humphreys, Laura, Syulyukina, Natalia, Brady, Samuel W., Alexandrov, Boian S., Pillay, Nischalan, Zhang, Jinghui, Adams, David J., Martincorena, Iñigo, Wedge, David C., Landi, Maria Teresa, Brennan, Paul, Stratton, Michael R., Rozen, Steven G., Alexandrov, Ludmil B.
Publicado 2022

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

por Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi
Publicado 2023