Publication: Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
Authors
Lagos, Catalina
Orellana, Joan
Moreno, Gabriela
Martín, Luz M.
Böhme, Daniela
Faundes, Víctor
Zavala, M. Jesús
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11 p.
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Acceso abierto
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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
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