Article

Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile

2026-02-22

Abstract excerpt

<h4>Background</h4> Exome 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. <h4>Methods</h4>...

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Literature Corpus work: 1ebe28f5-892d-5a73-b492-0ee90b6ee41d
DOI: 10.64898/2026.02.12.26345769

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