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， 将丰富基因组数据资源，推动儿科疾病研究，特别是 儿科MATCH试验队列涵盖匹配的诊断性和难治性肿瘤 样品一个成功的计划的关键要素将是提供高质量的 表型良好的患者的基因组序列数据， 以直观的方式向研究界提供数据，并整合遗传数据 与表型信息在这个程序的背景下，并与其他大型 数据资源。 我们建议继续作为布罗德研究所的儿童第一测序中心， 我们在过去的七年里为这个项目所做的一切， 支持NIH其他大型旗舰基因组项目。有了这个补充，我们将 在我们的身体产品中体现我们的专业知识。我们的中心带来了域 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 满足儿童第一计划和NCI童年目标所需的发现 癌症数据倡议（CCDI）。 我们将应用深度、高质量的全基因组测序数据， 样品我们将灵活地密切合作，并满足以下方面的需要和利益： 选择X01研究者。我们可以灵活地混合队列类型，无论他们是 肿瘤/正常对或四边形。我们还将与X01调查人员合作， 在100 X覆盖率下对所选样品的外显子组数据。此外，对于需要 在转录组水平的进一步研究中，我们将使用 为挑战性样品开发的管道。我们将参与这些评估 数据类型及其对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.