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

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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.