Secuenciación del genoma: costos, precisión, oftalmología

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– Nurchis MC, Radio FC, Salmasi L, Alizadeh AH, Raspolini GM, Altamura G, et al. Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders. JAMA Netw Open. 2024;7(1):e2353514.
– Bhérer C, Eveleigh R, Trajanoska K, St-Cyr J, Paccard A, Ravindran PN, et al. A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. npj Genom. Med. 2024;9:8.

– Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, et al. Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29;15(1):837.
– Liu X, Hu F, Zhang D, Li Z, He J, Zhang S, et al. Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. npj Genom. Med. 204;9:6.

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