User profiles for M. Puiggros

Montserrat Puiggròs

Barcelona Supercomputing Center
Verified email at bsc.es
Cited by 3503

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

…, PA Edwards, J Weischenfeldt, M Puiggròs… - 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 …

Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes

…, C López, V Chapaprieta, M Puiggros… - Blood, The Journal …, 2020 - ashpublications.org
Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement
with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non-nodal MCL (…

Extrachromosomal circular DNA drives oncogenic genome remodeling in neuroblastoma

…, J Maag, R Chamorro, N Munoz-Perez, M Puiggros… - Nature …, 2020 - nature.com
Extrachromosomal circularization of DNA is an important genomic feature in cancer. However,
the structure, composition and genome-wide frequency of extrachromosomal circular …

[HTML][HTML] Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma

…, E Rodriguez-Fos, M Puiggròs… - Nature …, 2020 - nature.com
MYCN amplification drives one in six cases of neuroblastoma. The supernumerary gene
copies are commonly found on highly rearranged, extrachromosomal circular DNA (ecDNA). …

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

…, S Beà, M Pinyol, M Aymerich, R Royo, M Puiggros… - Nature medicine, 2018 - nature.com
Chronic lymphocytic leukemia (CLL) is a frequent hematological neoplasm in which
underlying epigenetic alterations are only partially understood. Here, we analyze the reference …

[HTML][HTML] The BLUEPRINT data analysis portal

…, V de la Torre, D Richardson, R Royo, M Puiggròs… - Cell systems, 2016 - cell.com
The impact of large and complex epigenomic datasets on biological insights or clinical
applications is limited by the lack of accessibility by easy, intuitive, and fast tools. Here, we …

[HTML][HTML] Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

…, I Moran, G Atla, JR González, M Puiggros… - Nature …, 2018 - nature.com
The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity
to gain insights into the genetics of complex diseases. By reanalyzing publicly available type …

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

…, L Martinez, M Puiggròs, M Segura-Wang… - Nature …, 2014 - nature.com
The development of high-throughput sequencing technologies has advanced our understanding
of cancer. However, characterizing somatic structural variants in tumor genomes is still …

[PDF][PDF] TIGER: The gene expression regulatory variation landscape of human pancreatic islets

…, R Royo, M Puiggròs, X Garcia-Hurtado, M Suleiman… - Cell reports, 2021 - cell.com
Genome-wide association studies (GWASs) identified hundreds of signals associated with
type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have …

[HTML][HTML] The impact of non-additive genetic associations on age-related complex diseases

…, R Amela, S Bonàs-Guarch, M Puiggròs… - Nature …, 2021 - nature.com
… Using this strategy we imputed 2.6 M and 5.5 M high-… M indels. Note that as many as 684,393
common variants (MAF ≥ 0.05), 255,106 low-frequency, 1.7 M rare, and all indels (1.6 M) …