NICHD-California Birth Defects Study

我们已经扩大了与加州卫生部的合作，包括斯坦福大学，纽约州卫生部和爱荷华州大学。 这项研究已经增长，因为额外的资金已成为包括其他罕见的，心脏和非心脏缺陷。 由于加州的出生人数非常多，我们已经能够确定非常罕见的缺陷病例进行调查。 由于我们在纽约州的工作，我们也应该能够确定来自纽约的受试者，以验证我们在加州的调查结果。 我们已经获准使用新生儿筛查的残留血斑。 我们已经确定了具有罕见缺陷的病例。 已获取生命记录数据和样本，并将其送往研究实验室进行全外显子组测序。 由于明尼苏达大学的实验室因冠状病毒大流行而关闭，测序工作严重延误。 现在，实验室又向前迈进了一步，许多样本已经完成了全外显子组测序。 根据我们的任务订单合同，明尼苏达大学的遗传学家正在清理，编辑和执行整个外显子组测序数据的初步分析。 第一批缺陷的结果目前正在NICHD进行分析。 由于其中一些缺陷极为罕见，我们有一个几乎独一无二的机会获得病例。虽然滤纸不是分析DNA的理想来源，但大多数样品，包括一些较老的样品，在整个外显子组测序过程中产生了优异的结果。

We have expanded our collaboration with The California Department of Health to include Stanford University, the New York State Department of Health and the University of Iowa. This study has grown since additional funding has become available to include other rare, cardiac and non-cardiac defects. Because of the very large number of births in California, we have been able to identify cases of very rare defects for investigation. Because of our work in New York State, we also should be able to identify subjects from NY to verify findings from our investigations in California. We have been granted permission to use the residual blood spots from newborn screening. We have identified cases with rare defects of interest. Vital records data and samples have been acquired and sent to the study laboratory for whole exome sequencing. There as been a serious delay in the sequencing because the laboratory at the University of Minnesota was shut down due to the corona virus pandemic. Now the laboratory is moving forward again and many samples have been whole exome sequenced. Under our task order contract the geneticists at the University of Minnesota are cleaning, editing and performing the initial analysis of the whole exome sequencing data. Results for the first defects are now being analyzed at NICHD. Because some of these defects are extremely rare, we have an almost unique opportunity to obtain cases. Although filter paper is not the ideal source of DNA for analysis, a majority of the samples, including some older samples, are producing excellent results in the whole exome sequencing process.