User profiles for M. Puiggros
Montserrat PuiggròsBarcelona 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 …
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 (…
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 …
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). …
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 …
underlying epigenetic alterations are only partially understood. Here, we analyze the reference …
[HTML][HTML] The BLUEPRINT data analysis portal
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 …
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
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 …
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 …
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 …
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) …
common variants (MAF ≥ 0.05), 255,106 low-frequency, 1.7 M rare, and all indels (1.6 M) …