Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of known disease genes (gene panels, clinical exome). These tests have a variable and often limited diagnostic rate depending on the clinical presentation, size of the gene panel and our understanding of the inheritance of the disorder (with examples described in this issue). There are numerous possible explanations for the missing heritability of these cases including undetected variants within the relevant gene (intronic, up/down‐stream and structural variants), variants harbored in genes outside the targeted panel, intergenic variants, variants undetectable by the applied technology, complex/non‐Mendelian inheritance, and nongenetic phenocopies. In this article we further explore and review methods to investigate these sources of missing heritability.

中文翻译：

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基因组学时代的眼遗传学。

目前遗传性眼病的基因筛查方法集中于已知疾病基因的编码外显子（基因组、临床外显子组）。这些测试的诊断率可变且通常有限，具体取决于临床表现、基因组的大小和我们对疾病遗传的理解（本期中描述的示例）。这些病例的遗传力缺失有多种可能的解释，包括相关基因内未检测到的变异（内含子、上游/下游和结构变异）、靶基因组外基因中的变异、基因间变异、应用技术无法检测到的变异，复杂/非孟德尔遗传和非遗传表型。