Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing.

by Rebeca Moreira, Pablo Balseiro, Josep V Planas, Berta Fuste, Sergi Beltran, Beatriz Novoa, Antonio Figueras
Published 2012-01-01

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

by Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Published 2017-01-01

High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes.

by Patricia Pereiro, Pablo Balseiro, Alejandro Romero, Sonia Dios, Gabriel Forn-Cuni, Berta Fuste, Josep V Planas, Sergi Beltran, Beatriz Novoa, Antonio Figueras
Published 2012-01-01

Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo

by Alicia García, Encarni Aguado, Genis Parra, Susana Manzano, Cecilia Martínez, Zoraida Megías, Gustavo Cebrián, Jonathan Romero, Sergi Beltrán, Dolores Garrido, Manuel Jamilena
Published 2018-08-01

Correction: Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

by José P Vaqué, Nerea Martínez, Ignacio Varela, Fidel Fernández, Marta Mayorga, Sophia Derdak, Sergi Beltrán, Thaidy Moreno, Carmen Almaraz, Gonzalo De Las Heras, Mónica Bayés, Ivo Gut, Javier Crespo, Miguel A Piris
Published 2015-01-01

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

by José P Vaqué, Nerea Martínez, Ignacio Varela, Fidel Fernández, Marta Mayorga, Sophia Derdak, Sergi Beltrán, Thaidy Moreno, Carmen Almaraz, Gonzalo De Las Heras, Mónica Bayés, Ivo Gut, Javier Crespo, Miguel A Piris
Published 2015-01-01

Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish.

by Arjan P Palstra, Sergi Beltran, Erik Burgerhout, Sebastiaan A Brittijn, Leonardo J Magnoni, Christiaan V Henkel, Hans J Jansen, Guido E E J M van den Thillart, Herman P Spaink, Josep V Planas
Published 2013-01-01

Framework for quality assessment of whole genome cancer sequences

by Justin P. Whalley, Ivo Buchhalter, Esther Rheinbay, Keiran M. Raine, Miranda D. Stobbe, Kortine Kleinheinz, Johannes Werner, Sergi Beltran, Marta Gut, Daniel Hübschmann, Barbara Hutter, Dimitri Livitz, Marc D. Perry, Mara Rosenberg, Gordon Saksena, Jean-Rémi Trotta, Roland Eils, Daniela S. Gerhard, Peter J. Campbell, Matthias Schlesner, Ivo G. Gut
Published 2020-10-01

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

by Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Published 2021-01-01

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

by Marcos Díaz-Gay, Sebastià Franch-Expósito, Coral Arnau-Collell, Solip Park, Fran Supek, Jenifer Muñoz, Laia Bonjoch, Anna Gratacós-Mulleras, Paula A. Sánchez-Rojas, Clara Esteban-Jurado, Teresa Ocaña, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan José Lozano, Genis Parra, Steve Laurie, Sergi Beltran, EPICOLON Consortium, Antoni Castells, Luis Bujanda, Joaquín Cubiella, Francesc Balaguer, Sergi Castellví-Bel
Published 2019-03-01

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

by Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Published 2020-08-01

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

by Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Published 2021-03-01

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved]

by David Salgado, Irina M. Armean, Michael Baudis, Sergi Beltran, Salvador Capella-Gutierrez, Denise Carvalho-Silva, Victoria Dominguez Del Angel, Joaquin Dopazo, Laura I. Furlong, Bo Gao, Leyla Garcia, Dietlind Gerloff, Ivo Gut, Attila Gyenesei, Nina Habermann, John M. Hancock, Marc Hanauer, Eivind Hovig, Lennart F. Johansson, Thomas Keane, Jan Korbel, Katharina B. Lauer, Steve Laurie, Brane Leskošek, David Lloyd, Tomas Marques-Bonet, Hailiang Mei, Katalin Monostory, Janet Piñero, Krzysztof Poterlowicz, Ana Rath, Pubudu Samarakoon, Ferran Sanz, Gary Saunders, Daoud Sie, Morris A. Swertz, Kirill Tsukanov, Alfonso Valencia, Marko Vidak, Cristina Yenyxe González, Bauke Ylstra, Christophe Béroud
Published 2020-10-01