Inici
→
Recerca: articles, congressos, llibres
→
Documents OpenAIRE (Open Access Infrastructure for Research in Europe)
→
Visualitza Documents OpenAIRE (Open Access Infrastructure for Research in Europe) per autoria

Visualitza Documents OpenAIRE (Open Access Infrastructure for Research in Europe) per autoria "Ossowski, Stephan"

Ara mostrant els elements 1-16 de 16

Allele balance bias identifies systematic genotyping errors and false disease associations

Muyas, Francesc; Bosio, Mattia; Puig, Anna; Sušak, Hana, 1985-; Domènech Salgado, Laura, 1989-; Escaramís, Geòrgia; Zapata Ortiz, Luis, 1985-; Demidov, German, 1990-; Estivill, Xavier, 1955-; Rabionet, Raquel; Ossowski, Stephan (Wiley, 2019)

In recent years, next-generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in ...
Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis

Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio (Nature Research, 2019)

Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L.; Yang, Lixing; Gordenin, Dmitry; Klimczak, Leszek J.; Zhang, Cheng-Zhong; Pellman, David S.; PCAWG Structural Variation Working Group; Park, Peter J.; PCAWG Consortium; Ossowski, Stephan; Pearson, John V. (Nature Research, 2020)

Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may ...
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet (Wiley, 2014)

Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous ...
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)

Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

Sušak, Hana, 1985-; Serra Saurina, Laura; Demidov, German, 1990-; Rabionet, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan (Public Library of Science (PLoS), 2021)

Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates ...
Environmental enrichment induces epigenomic and genome organization changes relevant for cognition

Espeso Gil, Sergio, 1985-; Holik, Aliaksei Z.; Bonnin, Sarah; Jhanwar, Shalu, 1986-; Chandrasekaran, Sandhya; Pique Regi, Roger; Albaigès-Ràfols, Júlia; Maher, Michael; Permanyer, Jon; Irimia Martínez, Manuel; Friedländer, Marc R.; Pons Espinal, Meritxell, 1986-; Akbarian, Schahram; Dierssen, Mara; Maass, Philipp G.; Hor, Charlotte N.; Ossowski, Stephan (Frontiers, 2021)

In early development, the environment triggers mnemonic epigenomic programs resulting in memory and learning experiences to confer cognitive phenotypes into adulthood. To uncover how environmental stimulation impacts the ...
Genomic footprints of activated telomere maintenance mechanisms in cancer

Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine; Hutter, Barbara; Braun, Delia M.; Cortés-Ciriano, Isidro; Xi, Ruibin; Kabbe, Rolf; Park, Peter J.; Eils, Roland; Schlesner, Matthias; PCAWG Structural Variation Working Group; Brors, Benedikt; Rippe, Karsten; Jones, David T. W.; Feuerbach, Lars; PCAWG Consortium; Ossowski, Stephan; Estivill, Xavier, 1955- (Nature Research, 2020)

Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ...
Identification of gene mutations and fusion genes in patients with Sézary syndrome.

Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955- (Elsevier, 2016)

Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being ...
Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome

Zapata Ortiz, Luis, 1985-; Pich, Oriol; Serrano Pubull, Luis, 1982-; Kondrashov, Fyodor A., 1979-; Ossowski, Stephan; Schaefer, Martin H. (BioMed Central, 2018)

Background: Natural selection shapes cancer genomes. Previous studies used signatures of positive selection to identify genes driving malignant transformation. However, the contribution of negative selection against somatic ...
Nuclear gene proximity and protein interactions shape transcript covariations in mammalian single cells

Tarbier, Marcel; Mackowiak, Sebastian D.; Frade, João; Catuara Solarz, Silvina, 1986-; Biryukova, Inna; Gelali, Eleni; Bárcena Menéndez, Diego, 1984-; Zapata Ortiz, Luis, 1985-; Ossowski, Stephan; Bienko, Magda; Gallant, Caroline J.; Friedländer, Marc R. (Nature Research, 2020)

Single-cell RNA sequencing studies on gene co-expression patterns could yield important regulatory and functional insights, but have so far been limited by the confounding effects of differentiation and cell cycle. We apply ...
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodríguez Martín, Bernardo; PCAWG Structural Variation Working Group; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)

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 retrotransposition in 2,954 cancer genomes from ...
PeSV-Fisher: identification of somatic and non-somatic structural variants using nextgeneration sequencing data

Escaramís, Geòrgia; Tornador Antolin, Cristian, 1979-; Bassaganyas Bars, Laia, 1985-; Rabionet, Raquel; Tubio, José M. C.; Martínez Fundichely, Alexander, 1978-; Cáceres Aguilar, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)

Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the ...
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

Zapata Ortiz, Luis, 1985-; Sušak, Hana, 1985-; Drechsel, Oliver; Friedländer, Marc R.; Estivill, Xavier, 1955-; Ossowski, Stephan (Nature Publishing Group, 2017)

Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

Muyas Remolar, Francesc, 1992-; Zapata Ortiz, Luis, 1985-; Guigó Serra, Roderic; Ossowski, Stephan (BioMed Central, 2020)

Background: Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of ...
Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates

Dmitrijeva, Marija; Ossowski, Stephan; Serrano Pubull, Luis, 1982-; Schaefer, Martin H. (Oxford University Press, 2018)

DNA methylation is an epigenetic mechanism known to affect gene expression and aberrant DNA methylation patterns have been described in cancer. However, only a small fraction of differential methylation events target genes ...