NICHD-California Birth Defects Study

我们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大学。 自从有了额外的资金，包括其他罕见的、心脏和非心脏缺陷，这项研究就得到了发展。由于加州的出生人数非常多，我们能够识别出非常罕见的缺陷案例进行调查。由于我们在纽约州的工作，我们也应该能够识别来自纽约的受试者，以验证我们在加利福尼亚州的调查结果。 我们已经获准使用新生儿筛查的残留血点。我们已经确定了具有罕见缺陷的病例。生命记录、数据和样本已经获得，并被送到研究实验室进行整个外显子组测序。由于冠状病毒大流行，明尼苏达大学的实验室被关闭，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完整的外显子组测序。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。NICHD正在分析第一批缺陷的结果。 由于其中一些缺陷极其罕见，我们几乎有一个独一无二的机会来获得病例。尽管滤纸不是DNA分析的理想来源，但大多数样本，包括一些较老的样本，在整个外显子组测序过程中都产生了很好的结果。

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.