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The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

8 Oct 2024

Abstract excerpt

Background Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders. Methods This retrospective analysis included 144 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39439447
DOI: 10.3389/fped.2024.1448895

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