Whole Exome Sequencing | Plataforma Andaluza de Medicina Computacional

A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways.

Submitted by jdopazo on Fri, 02/12/2021 - 18:24

Garrido-Rodriguez M, López-López D, Ortuno FM, et al. A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Submitted by rgarcia on Mon, 03/23/2020 - 17:02

Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.

Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals.

Submitted by iguillen on Fri, 07/05/2019 - 14:34

Díez-Fuertes F, De La Torre-Tarazona HE, Calonge E, et al. Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals. Clin Microbiol Infect. 2020;26(1):107-114. doi:10.1016/j.cmi.2019.05.015.

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Submitted by jdopazo on Fri, 11/02/2018 - 11:33

Ibáñez M, Carbonell-Caballero J, Such E, et al. The modular network structure of the mutational landscape of Acute Myeloid Leukemia. PLoS One. 2018;13(10):e0202926. doi:10.1371/journal.pone.0202926.