Whole Genome Sequencing

Characterization of the Common Genetic Variation in the Spanish Population of Navarre.

Submitted by jdopazo on Fri, 10/11/2024 - 17:09

Maillo A, Huergo E, Apellániz-Ruiz M, et al. Characterization of the Common Genetic Variation in the Spanish Population of Navarre. Genes (Basel). 2024;15(5). doi:10.3390/genes15050585.

The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic.

Submitted by jdopazo on Fri, 10/11/2024 - 17:06

Casimiro-Soriguer CS, Perez-Florido J, Robles EA, et al. The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic. Sci Rep. 2024;14(1):19200. doi:10.1038/s41598-024-70107-0.

Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs).

Submitted by jdopazo on Fri, 10/11/2024 - 17:05

Moura DS, López DLópez, di Lernia D, et al. Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.

Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences.

Submitted by rgarcia on Wed, 12/15/2021 - 09:47

Ortuno FM, Loucera C, Casimiro-Soriguer CS, et al. Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. Gigascience. 2021;10(12). doi:10.1093/gigascience/giab078.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Submitted by iguillen on Mon, 06/10/2019 - 12:00

Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.