DNA Copy Number Variations | Plataforma Andaluza de Medicina Computacional

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.

Submitted by jdopazo on Fri, 08/13/2021 - 11:54

Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.

SMN1 copy-number and sequence variant analysis from next-generation sequencing data.

Submitted by jdopazo on Thu, 10/29/2020 - 12:58

López-López D, Loucera C, Carmona R, et al. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.

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.

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Submitted by iguillen on Tue, 06/11/2019 - 10:17

Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.