From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

por Laurie, Steve, Fernandez‐Callejo, Marcos, Marco‐Sola, Santiago, Trotta, Jean‐Remi, Camps, Jordi, Chacón, Alejandro, Espinosa, Antonio, Gut, Marta, Gut, Ivo, Heath, Simon, Beltran, Sergi
Publicado 2016

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2017

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2021

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

por Villanueva-Mendoza, Cristina, Tuson, Miquel, Apam-Garduño, David, de Castro-Miró, Marta, Tonda, Raul, Trotta, Jean Remi, Marfany, Gemma, Valero, Rebeca, Cortés-González, Vianney, Gonzàlez-Duarte, Roser
Publicado 2021

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

por Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Publicado 2017

Framework for quality assessment of whole genome cancer sequences

por Whalley, Justin P., Buchhalter, Ivo, Rheinbay, Esther, Raine, Keiran M., Stobbe, Miranda D., Kleinheinz, Kortine, Werner, Johannes, Beltran, Sergi, Gut, Marta, Hübschmann, Daniel, Hutter, Barbara, Livitz, Dimitri, Perry, Marc D., Rosenberg, Mara, Saksena, Gordon, Trotta, Jean-Rémi, Eils, Roland, Gerhard, Daniela S., Campbell, Peter J., Schlesner, Matthias, Gut, Ivo G.
Publicado 2020

A critical spotlight on the paradigms of FFPE-DNA sequencing

por Steiert, Tim A, Parra, Genís, Gut, Marta, Arnold, Norbert, Trotta, Jean-Rémi, Tonda, Raúl, Moussy, Alice, Gerber, Zuzana, Abuja, Peter M, Zatloukal, Kurt, Röcken, Christoph, Folseraas, Trine, Grimsrud, Marit M, Vogel, Arndt, Goeppert, Benjamin, Roessler, Stephanie, Hinz, Sebastian, Schafmayer, Clemens, Rosenstiel, Philip, Deleuze, Jean-François, Gut, Ivo G, Franke, Andre, Forster, Michael
Publicado 2023

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

por Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi
Publicado 2022

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

por Olson, Nathan D., Wagner, Justin, McDaniel, Jennifer, Stephens, Sarah H., Westreich, Samuel T., Prasanna, Anish G., Johanson, Elaine, Boja, Emily, Maier, Ezekiel J., Serang, Omar, Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Kyriakidis, Konstantinos, Malousi, Andigoni, Shafin, Kishwar, Pesout, Trevor, Jain, Miten, Paten, Benedict, Chang, Pi-Chuan, Kolesnikov, Alexey, Nattestad, Maria, Baid, Gunjan, Goel, Sidharth, Yang, Howard, Carroll, Andrew, Eveleigh, Robert, Bourgey, Mathieu, Bourque, Guillaume, Li, Gen, Ma, ChouXian, Tang, LinQi, Du, YuanPing, Zhang, ShaoWei, Morata, Jordi, Tonda, Raúl, Parra, Genís, Trotta, Jean-Rémi, Brueffer, Christian, Demirkaya-Budak, Sinem, Kabakci-Zorlu, Duygu, Turgut, Deniz, Kalay, Özem, Budak, Gungor, Narcı, Kübra, Arslan, Elif, Brown, Richard, Johnson, Ivan J., Dolgoborodov, Alexey, Semenyuk, Vladimir, Jain, Amit, Tetikol, H. Serhat, Jain, Varun, Ruehle, Mike, Lajoie, Bryan, Roddey, Cooper, Catreux, Severine, Mehio, Rami, Ahsan, Mian Umair, Liu, Qian, Wang, Kai, Ebrahim Sahraeian, Sayed Mohammad, Fang, Li Tai, Mohiyuddin, Marghoob, Hung, Calvin, Jain, Chirag, Feng, Hanying, Li, Zhipan, Chen, Luoqi, Sedlazeck, Fritz J., Zook, Justin M.
Publicado 2022