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Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile
2026-02-22
genetic and genomic medicine
Title + abstract only
View on medRxiv
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BackgroundExome sequencing (ES) has become a key diagnostic tool for rare diseases (RDs). However, most evidence on ES performance comes from high-income countries and patients from European ancestry. In countries such as Chile, limited access to next generation sequencing amplifies health disparities and highlights the need to identify which patients are most likely to benefit from ES. MethodsThis study presents the second phase of the Chilean DECIPHERD project, in which we performed ES in a n...
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