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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: muyas f. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
Susak H, Serra-Saurina L, Demidov G, Rabionet R, Domènech L, Bosio M, Muyas F, Estivill X, Escaramís G, Ossowski S. Susak H, et al. Among authors: muyas f. PLoS Comput Biol. 2021 Feb 19;17(2):e1007784. doi: 10.1371/journal.pcbi.1007784. eCollection 2021 Feb. PLoS Comput Biol. 2021. PMID: 33606672 Free PMC article.
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M; PCAWG-Structural Variation Working Group; Brors B, Rippe K, Jones DTW, Feuerbach L; PCAWG Consortium. Sieverling L, et al. Nat Commun. 2020 Feb 5;11(1):733. doi: 10.1038/s41467-019-13824-9. Nat Commun. 2020. PMID: 32024817 Free PMC article.
Pathway and network analysis of more than 2500 whole cancer genomes.
Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A, Pulido-Tamayo S, Barenboim J, Wadi L, Dhingra P, Shrestha R, Getz G, Lawrence MS, Pedersen JS, Rubin MA, Wheeler DA, Brunak S, Izarzugaza JMG, Khurana E, Marchal K, von Mering C, Sahinalp SC, Valencia A; PCAWG Drivers and Functional Interpretation Working Group; Reimand J, Stuart JM, Raphael BJ; PCAWG Consortium. Reyna MA, et al. Nat Commun. 2020 Feb 5;11(1):729. doi: 10.1038/s41467-020-14367-0. Nat Commun. 2020. PMID: 32024854 Free PMC article.
The landscape of viral associations in human cancers.
Zapatka M, Borozan I, Brewer DS, Iskar M, Grundhoff A, Alawi M, Desai N, Sültmann H, Moch H; PCAWG Pathogens; Cooper CS, Eils R, Ferretti V, Lichter P; PCAWG Consortium. Zapatka M, et al. Nat Genet. 2020 Mar;52(3):320-330. doi: 10.1038/s41588-019-0558-9. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32025001 Free PMC article.
65 results