Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining

by Jose M.G. Izarzugaza, Martin eKrallinger, Alfonso eValencia
Published 2012-08-01

Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP.

by Morten Bo Johansen, Jose M G Izarzugaza, Søren Brunak, Thomas Nordahl Petersen, Ramneek Gupta
Published 2013-01-01

Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios

by Maria Luisa Matey-Hernandez, Danish Pan Genome Consortium, Søren Brunak, Jose M. G. Izarzugaza
Published 2018-06-01

Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations.

by Nicolai Juul Birkbak, Bose Kochupurakkal, Jose M G Izarzugaza, Aron C Eklund, Yang Li, Joyce Liu, Zoltan Szallasi, Ursula A Matulonis, Andrea L Richardson, J Dirk Iglehart, Zhigang C Wang
Published 2013-01-01

Cutavirus in Cutaneous Malignant Melanoma

by Sarah Mollerup, Helena Fridholm, Lasse Vinner, Kristín Rós Kjartansdóttir, Jens Friis-Nielsen, Maria Asplund, Jose A.R. Herrera, Torben Steiniche, Tobias Mourier, Søren Brunak, Eske Willerslev, Jose M.G. Izarzugaza, Anders J. Hansen, Lars P. Nielsen
Published 2017-02-01

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

by Jose M. G. Izarzugaza, Sabrina G. Ellesøe, Canan Doganli, Natasja Spring Ehlers, Marlene D. Dalgaard, Enrique Audain, Gregor Dombrowsky, Karina Banasik, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc Gewillig, Competence Network for Congenital Heart Defects, Germany, J. David Brook, Marc-Phillip Hitz, Lars A. Larsen, Søren Brunak
Published 2020-08-01

Identification of Known and Novel Recurrent Viral Sequences in Data from Multiple Patients and Multiple Cancers

by Jens Friis-Nielsen, Kristín Rós Kjartansdóttir, Sarah Mollerup, Maria Asplund, Tobias Mourier, Randi Holm Jensen, Thomas Arn Hansen, Alba Rey-Iglesia, Stine Raith Richter, Ida Broman Nielsen, David E. Alquezar-Planas, Pernille V. S. Olsen, Lasse Vinner, Helena Fridholm, Lars Peter Nielsen, Eske Willerslev, Thomas Sicheritz-Pontén, Ole Lund, Anders Johannes Hansen, Jose M. G. Izarzugaza, Søren Brunak
Published 2016-02-01

Pathway and network analysis of more than 2500 whole cancer genomes

by Matthew A. Reyna, David Haan, Marta Paczkowska, Lieven P. C. Verbeke, Miguel Vazquez, Abdullah Kahraman, Sergio Pulido-Tamayo, Jonathan Barenboim, Lina Wadi, Priyanka Dhingra, Raunak Shrestha, Gad Getz, Michael S. Lawrence, Jakob Skou Pedersen, Mark A. Rubin, David A. Wheeler, Søren Brunak, Jose M. G. Izarzugaza, Ekta Khurana, Kathleen Marchal, Christian von Mering, S. Cenk Sahinalp, Alfonso Valencia, PCAWG Drivers and Functional Interpretation Working Group, Jüri Reimand, Joshua M. Stuart, Benjamin J. Raphael, PCAWG Consortium
Published 2020-02-01

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, Woodrow D Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Published 2021-07-01