Sergi Beltran
Sergi Beltran
Bioinformatics Analysis Unit Head, Centro Nacional de Análisis Genómico
Verified email at - Homepage
Cited by
Cited by
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
Pan-cancer analysis of whole genomes.
S Hirano, L Yang, M Juul, CA Purdie, BP O'Neill, R Kabbe, ...
Nature 578 (DKFZ-2020-01051), 82-93, 2020
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
The matchmaker exchange: A platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human Mutation 36 (10), 915-921, 2015
Effect of predicted protein-truncating genetic variants on the human transcriptome
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...
Science 348 (6235), 666-669, 2015
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy
C Balbás-Martínez, A Sagrera, E Carrillo-de-Santa-Pau, J Earl, ...
Nature genetics 45 (12), 1464-1469, 2013
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
TS Alioto, I Buchhalter, S Derdak, B Hutter, MD Eldridge, E Hovig, ...
Nature communications 6, 2015
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
P AC't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ...
Nature biotechnology 31 (11), 1015, 2013
GA4GH: international policies and standards for data sharing across genomic research and healthcare
HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ...
Cell Genomics 1 (2), 100029, 2021
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
J Metzger, M Karwath, R Tonda, S Beltran, L Águeda, M Gut, IG Gut, ...
BMC genomics 16 (1), 764, 2015
High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes
P Pereiro, P Balseiro, A Romero, S Dios, G Forn-Cuni, B Fuste, JV Planas, ...
PLoS One 7 (5), e35369, 2012
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation
N Martínez, C Almaraz, JP Vaqué, I Varela, S Derdak, S Beltran, ...
Leukemia 28 (6), 1334-1340, 2014
Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program
C Estarás, N Akizu, A García, S Beltrán, X de la Cruz, MA Martínez-Balbás
Development 139 (15), 2681-2691, 2012
Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing
R Moreira, P Balseiro, JV Planas, B Fuste, S Beltran, B Novoa, A Figueras
PloS one 7 (4), e35009, 2012
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
C Esteban-Jurado, M Vila-Casadesús, P Garre, JJ Lozano, ...
Genetics in Medicine 17 (2), 131-142, 2014
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)
D Genis, S Ortega-Cubero, H San Nicolás, J Corral, J Gardenyes, ...
Neurology 91 (21), e1988-e1998, 2018
CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1 mantle cell lymphoma
D Martín-Garcia, A Navarro, R Valdés-Mas, G Clot, J Gutiérrez-Abril, ...
Blood, The Journal of the American Society of Hematology 133 (9), 940-951, 2019
Leveraging European infrastructures to access 1 million human genomes by 2022
G Saunders, M Baudis, R Becker, S Beltran, C Béroud, E Birney, ...
Nature Reviews Genetics 20 (11), 693-701, 2019
Shared oncogenic pathways implicated in both virus-positive and UV-induced Merkel cell carcinomas
M del Carmen Gonzalez-Vela, S Curiel-Olmo, S Derdak, S Beltran, ...
Journal of Investigative Dermatology 137 (1), 197-206, 2017
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