Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

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.