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Updated: Sep 3, 2026

In vitro Synthesis of Native, Fibrous Long Spacing and Segmental Long Spacing Collagen
Published on: September 20, 2012
Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens
Delfien Syx1,2, Brecht Guillemyn1, Sofie Symoens1,2
1Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Abstract:
Genetic defects in the genes encoding fibrillar collagen types I, II, III, V, and XI result in a variety of heritable connective tissue disorders. Next-generation sequencing (NGS) applications have facilitated the screening of these disease genes, but the interpretation of the obtained variants can be challenging. We describe a protocol for both targeted gene panel and exome-wide library preparation, bioinformatic pipeline, and variant classification and interpretation of germline variants in types I, II, III, V, and XI collagen.
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