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Collagenopathies are heterogeneous diseases that affect collagen proteins, which are ubiquitous in the body and characterized by the distinctive amino acid sequence Gly-X-Y. Next-generation sequencing (NGS) has gained an increasingly essential role in improving our understanding of the molecular bases of heterogeneous diseases like collagenopathies. In the last decades new NGS tools have been developed, such as whole exome sequencing (WES) and custom target sequencing, and they have become efficient and cost-effective methods for clinical diagnosis. In this review, we discuss the relevance of WES and custom target sequencing in the clinical diagnosis of collagenopathies.

Clinical Application of NGS Tools in the Diagnosis of Collagenopathies