Objectives: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be used. Genomic analyses, based on massively parallel next-generation sequencing technologies, play a vital role in deciphering the genetic bases of NSOFCs.

中文翻译：

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使用沙特家庭的全外显子测序鉴定导致非综合征性口面部裂口的病因变异

目的：非综合征性口面部裂隙（NSOFC）是在全球范围内最常见的颅面畸形。它们分为三种类型：（a）left裂，（b）唇裂和（c）唇and裂。为了鉴定有助于多基因疾病（例如NSOFC）的潜在候选基因，可以使用连锁分析，全基因组关联研究和基因组重排。基于大规模并行下一代测序技术的基因组分析在破译NSOFC的遗传基础方面起着至关重要的作用。