User profiles for Bernardo Rodriguez-Martin

Bernardo Rodriguez Martin

Centre for Genomic Regulation (CRG)
Verified email at crg.eu
Cited by 2961

[PDF][PDF] Characterizing mutational signatures in human cancer cell lines reveals episodic APOBEC mutagenesis

M Petljak, LB Alexandrov, JS Brammeld, S Price… - Cell, 2019 - cell.com
Multiple signatures of somatic mutations have been identified in cancer genomes. Exome
sequences of 1,001 human cancer cell lines and 577 xenografts revealed most common …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

[HTML][HTML] Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

B Rodriguez-Martin, EG Alvarez, A Baez-Ortega… - Nature …, 2020 - nature.com
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize
their role in oncogenesis, we analyzed the patterns and mechanisms of somatic …

[HTML][HTML] Genomic landscape and chronological reconstruction of driver events in multiple myeloma

…, R Szalat, F Abascal, B Rodriguez-Martin… - Nature …, 2019 - nature.com
The multiple myeloma (MM) genome is heterogeneous and evolves through preclinical and
post-diagnosis phases. Here we report a catalog and hierarchy of driver lesions using …

[PDF][PDF] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

…, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin… - Cell, 2022 - cell.com
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Structural variation in cancer: role, prevalence, and mechanisms

MR Cosenza, B Rodriguez-Martin… - Annual Review of …, 2022 - annualreviews.org
Somatic rearrangements resulting in genomic structural variation drive malignant phenotypes
by altering the expression or function of cancer genes. Pan-cancer studies have revealed …

[HTML][HTML] Aberrant integration of Hepatitis B virus DNA promotes major restructuring of human hepatocellular carcinoma genome architecture

…, J Temes, A Baez-Ortega, B Rodriguez-Martin… - Nature …, 2021 - nature.com
Most cancers are characterized by the somatic acquisition of genomic rearrangements
during tumour evolution that eventually drive the oncogenesis. Here, using multiplatform …

[HTML][HTML] Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

B Rodriguez-Martin, EG Alvarez, A Baez-Ortega… - nature genetics, 2023 - nature.com
In the published version of this paper, the members of the Pan-Cancer Analysis of Whole
Genomes (PCAWG) Consortium were listed in the Supplementary Information; however, these …

[HTML][HTML] ChimPipe: accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data

B Rodríguez-Martín, E Palumbo, S Marco-Sola… - BMC genomics, 2017 - Springer
Background Chimeric transcripts are commonly defined as transcripts linking two or more
different genes in the genome, and can be explained by various biological mechanisms such …

[HTML][HTML] CDKN2A deletion is a frequent event associated with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS)

…, F Abascal, B Diamond, B Rodriguez-Martin… - …, 2021 - ncbi.nlm.nih.gov
Nodal peripheral T-cell lymphoma not otherwise specified (PTCLNOS) remains a diagnosis
encompassing a heterogenous group of PTCL cases not fitting criteria for more …