Missing Genetic Risk in Neural Tube Defects: Can Exome Sequencing Yield an Insight?
Missing Genetic Risk in Neural Tube Defects: Can Exome Sequencing Yield an Insight?
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DOI：
10.1002/bdra.23276
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发表时间：
2014-08-01
影响因子：
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通讯作者：
Gregory, Simon G.
中科院分区：
文献类型：
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作者：
Krupp, Deidre R.;Soldano, Karen L.;Gregory, Simon G.
背景：神经管缺陷（NTD）有很强的遗传成分，高达70%的人类患病率的变异由遗传因素决定。虽然通过对来自功能相关途径和模式生物的候选基因进行测序来鉴定致病DNA变体已经取得了一些成功，但需要替代方法。研究方法：下一代测序平台正在以比以前更快的速度和更便宜的成本促进大量测序数据的产生，主要来自基因组的蛋白质编码区。这些平台允许鉴定作为NYTD病因驱动因素的变体（从头，罕见和常见），并且该方法的成本允许从NTD家族和单纯病例中筛选更多受影响和未受影响的个体。结论：下一代测序平台代表了遗传学研究人员武器库中识别NTD因果遗传基础的强大工具。
Background: Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally relevant pathways and model organisms has provided some success, alternative approaches are demanded. Methods: Next generation sequencing platforms are facilitating the production of massive amounts of sequencing data, primarily from the protein coding regions of the genome, at a faster rate and cheaper cost than has previously been possible. These platforms are permitting the identification of variants (de novo, rare, and common) that are drivers of NYTD etiology, and the cost of the approach allows for the screening of increased numbers of affected and unaffected individuals from NTD families and in simplex cases. Conclusion: The next generation sequencing platforms represent a powerful tool in the armory of the genetics researcher to identify the causal genetic basis of NTDs.