Genome Sequencing in support of the Gabriella Miller Kids First Pediatric Research Program Supplement

摘要 我们建议继续提供数据生成和处理活动，以 将丰富基因组数据资源，以推动儿科疾病研究，特别是 涵盖匹配的诊断和难治性肿瘤的儿科配对试验队列 样本。一个成功计划的关键要素将是提供高质量的 表型良好的患者基因组序列数据的收集和可获得性 以直观的方式将数据提供给研究界，并整合遗传数据 与表型信息在此程序的上下文中并与其他大型 数据资源。 我们建议继续作为博德研究所的儿童第一测序中心 在过去的七年里，我们为该计划所做的一切，就像我们在 支持其他大型旗舰NIH基因组项目。有了这份补充，我们将带来 在我们的身体产品中承载我们的专业知识。我们的中心带来了领域 在高通量数据生成、处理和分析以及疾病基因方面的专业知识 满足儿童优先计划和NCI儿童时期目标所需的发现 癌症数据倡议(CCDI)。 我们将把深度、高质量的全基因组测序数据应用于选定的 样本。我们将灵活地密切合作，照顾各国的需求和利益。 精选X01调查员。我们可以灵活地混合使用不同的队列类型，无论是 肿瘤/正常对或四对。我们还将与X01调查人员合作，以生成 选定样本100倍覆盖率的Exome数据。另外，对于需要 在转录组水平的进一步研究，我们将使用 为挑战样品开发的流水线。我们将参与对这些项目的评估 数据类型及其对该计划的发现和科学产出的总体影响。

ABSTRACT We propose to continue to provide data generation and processing activities that will enrich a genomic data resource to propel pediatric disease research and in particular the Pediatric MATCH trial cohort covering matched diagnostic and refractory tumor samples. Key elements to a successful program will be the provision of high quality genome sequence data on well-phenotyped patients, the collection and accessibility of data to the research community in an intuitive manner, and the integration of genetic data with phenotypic information in the context of this program and comparison to other large data resources. We propose to continue as a Kids First Sequencing Center at the Broad Institute as we have done for the past seven years for the program and as we have also done in support of other large flagship NIH genome projects. With this supplement, we will bring to bear our expertise in our somatic product offerings. Our center brings the domain expertise in high throughput data generation, processing and analysis, and disease gene discovery required to meet the objectives of the Kids First Program and NCI's Childhood Cancer Data Initiative (CCDI). We will apply deep, high-quality whole genome sequencing data on selected samples. We will be flexible to work closely and accommodate the needs and interests of selected X01 Investigators. We are flexible to a mix of cohort types, whether they are tumor/normal pairs or quads. We will also work with X01 Investigators to generate whole exome data at 100X coverage on selected samples. Additionally for samples that need further investigation at the transcriptome level, we will generate RNASeq data using a pipeline developed for challenging samples. We will participate in the evaluation of these data types and their overall impact on discovery and scientific output of the program.