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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

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s41431-023-01523-5.pdf (806.76 KB)

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2024

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Article

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Artículos Medicina y Ciencias de la Salud

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274

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31
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Authors

Lagos, Catalina
Orellana, Joan
Moreno, Gabriela
Martín, Luz M.
Böhme, Daniela
Faundes, Víctor
Zavala, M. Jesús

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https://doi.org/10.1038/s41431-023-01523-5

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https://repositorio.udd.cl/handle/11447/8320

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11 p.

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Abstract

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, h...

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Citation

Poli, M.C., Rebolledo-Jaramillo, B., Lagos, C. et al. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-023-01523-5

Keywords

Undiagnosed diseases , Chile

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