Article

Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the Czech Republic

2024-05-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. Along with developing these specialized programs has been a rapid shift towards using whole-exome sequencing (WES) as the first-line diagnostic test for these patients. <bold>Methods:</bold> In our s...

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Literature Corpus work: 644854e4-5d6c-5389-a5d8-30042071e10c
DOI: 10.21203/rs.3.rs-4338921/v1

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