A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

Autor: Poloni, Giulia, Calore, Martina, Rigato, Ilaria, Marras, Elena, Minervini, Giovanni, Mazzotti, Elisa, Lorenzon, Alessandra, Li Mura, Ilena Egle Astrid, Telatin, Andrea, Zara, Ivano, Simionati, Barbara, Perazzolo Marra, Martina, Ponti, Jessica, Occhi, Gianluca, Vitiello, Libero, Daliento, Luciano, Thiene, Gaetano, Basso, Cristina, Corrado, Domenico, Tosatto, Silvio, Bauce, Barbara, Rampazzo, Alessandra, De Bortoli, Marzia

Publikováno v: In Heart Rhythm May 2019 16(5):773-780

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Performance and precision of double digestion RAD (ddRAD) genotyping in large multiplexed datasets of marine fish species

Autor: Maroso, Francesco, Hillen, Jasmien E. J., Gómez Pardo, María Belén, Gkagkavouzis, Konstantinos, Coscia, Ilaria, Hermida Prieto, Miguel, Franch, Rafaella, Hellemans, Bart, van Houdt, Jeroen K.J., Simionati, Barbara, Taggart, John B., Nielsen, Einar Eg, Maes, Gregory E., Ciavaglia, Sherryn, Webster, Lucy, Volckaert, Filip A. M., Martínez Portela, Paulino, Bargelloni, Luca, Ogden, Rob, The Aquatrace Consortium

Publikováno v: Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Maroso, F, Hillen, J E J, Pardo, B G, Gkagkavouzis, K, Coscia, I, Hermida, M, Franch, R, Hellemans, B, Van Houdt, J, Simionati, B, Taggart, J B, Nielsen, E E, Maes, G, Ciavaglia, S A, Webster, L M I, Volckaert, F A M, Martinez, P, Bargelloni, L, Ogden, R & AquaTrace, C 2018, ' Performance and precision of double digestion RAD (ddRAD) genotyping in large multiplexed datasets of marine fish species ', Marine Genomics, vol. 39, pp. 64-72 . https://doi.org/10.1016/j.margen.2018.02.002
Maroso, F, Hillen, J E J, Pardo, B G, Gkagkavouzis, K, Coscia, I, Hermida, M, Franch, R, Hellemans, B, Van Houdt, J K J, Simionati, B, Taggart, J B, Nielsen, E E, Maes, G E, Ciavaglia, S A, Webster, L M I, Volckaert, F A M, Martinez, P & Bargelloni, L & Ogden, R 2018, ' Performance and precision of double digestion RAD (ddRAD) genotyping in large multiplexed datasets of marine fish species ', Marine Genomics, vol. 39, pp. 64-72 . https://doi.org/10.1016/j.margen.2018.02.002
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
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The development of Genotyping-By-Sequencing (GBS) technologies enables cost-effective analysis of large numbers of Single Nucleotide Polymorphisms (SNPs), especially in “non-model” species. Nevertheless, as such technologies enter a mature phase,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1033f8e52ce0763f1c21fbd63ede5e23
https://pubmed.ncbi.nlm.nih.gov/29496460

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