Topography of mutational signatures in human cancer by Burçak Otlu, Marcos Díaz-Gay, Ian Vermes, Erik N. Bergstrom, Maria Zhivagui, Mark Barnes, Ludmil B. Alexandrov

Get full text

Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator by Azhar Khandekar, Raviteja Vangara, Mark Barnes, Marcos Díaz-Gay, Ammal Abbasi, Erik N. Bergstrom, Christopher D. Steele, Nischalan Pillay, Ludmil B. Alexandrov

Get full text

CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications by Sebastià Franch-Expósito, Laia Bassaganyas, Maria Vila-Casadesús, Eva Hernández-Illán, Roger Esteban-Fabró, Marcos Díaz-Gay, Juan José Lozano, Antoni Castells, Josep Maria Llovet, Sergi Castellví-Bel, Jordi Camps

Get full text

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome by Laia Bonjoch, Yasmin Soares de Lima, Marcos Díaz-Gay, Isabella Dotti, Jenifer Muñoz, Leticia Moreira, Sabela Carballal, Teresa Ocaña, Miriam Cuatrecasas, Oswaldo Ortiz, Antoni Castells, Maria Pellisé, Francesc Balaguer, Azucena Salas, Ludmil B. Alexandrov, Sergi Castellví-Bel

Get full text

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome by Mariano Golubicki, Laia Bonjoch, José G. Acuña-Ochoa, Marcos Díaz-Gay, Jenifer Muñoz, Miriam Cuatrecasas, Teresa Ocaña, Soledad Iseas, Guillermo Mendez, Daniel Cisterna, Stephanie A. Schubert, Maartje Nielsen, Tom van Wezel, Yael Goldberg, Eli Pikarsky, Juan Robbio, Enrique Roca, Antoni Castells, Francesc Balaguer, Marina Antelo, Sergi Castellví-Bel

Get full text