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Unsolved challenges in pediatric whole-exome sequencing

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The journal Critical Reviews in Clinical Laboratory Sciences has published an article about unsolved challenges in pediatric whole-exome sequencing. Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. The full-text article you can find here.

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