GENETIC FACTORS IN BIRTH DEFECTS-GENOMIC TESTING

严重的出生缺陷是一个严重的健康问题，大约2%的新生儿会出现这种情况。尽管已经进行了所有的研究，但大多数出生缺陷的原因仍然未知。大规模的遗传学调查为病因学研究提供了一条新的途径。随着技术的进步，用小样本的DNA做越来越多的事情变得可能。我们小组一直在积极寻找使用非常少量的DNA(例如从滤纸血点中获得的DNA)进行全基因组研究的方法。这项研究将通过全外显子组测序(WES)来检测基因组(外显子组)的整个编码序列。外显子组是基因组研究的一个很好的目标，因为WES只需要对基因组的1%-2%进行测序，但提供了所有编码材料的数据。为了获得其他潜在重要领域的数据而进行全基因组测序的成本要高得多，并在解释数据方面带来了严重的挑战。因此，WES通常被认为是最有价值的。这一过程产生的数据也可用于识别拷贝数变体(CNV)。因此，小到外显子组的单核苷酸多态(SNP)变化或大到一段染色体的复制或缺失的两种变异都将被识别。

Major birth defects are a serious health problem, occurring in approximately two percent of births. Despite all the research that has been conducted, the cause of most birth defects remains unknown. Large scale genetic investigations offer a new pathway for etiologic investigation. As the technology advances, it becomes possible to do more and more with small samples of DNA. Our group has been active in identifying ways to use very small amounts of DNA (such as is available from filter paper blood spots) to conduct genome-wide studies. This study will examine the entire coding sequence of the genome (the exome) by whole exome sequencing (WES). The exome is an excellent target for genome studies because WES requires sequencing only 1-2% of the genome but provides data on all the coding material. Whole genome sequencing to obtain data on other potentially important areas is far more costly and creates serious challenges in interpreting the data. Therefore, WES is generally considered the best value. The data generated by this process can also be used to identify copy number variants (CNV). Thus, both variants as small as a single nucleotide polymorphism (SNP) change in an exome or as large as a duplication or deletion in a section of a chromosome, will be identified.