Research Report 2019_20


The Nova Seq 6000 machines provide high-throughput sequencing for the HudsonAlpha Discovery as they continue to develop workflow optimization, and cutting-edge analytical pipelines.

In addition to his leadership role at HudsonAlpha Discovery, Levy continues to use his sequencing exper- tise to contribute to other research projects, includ- ing the Gabriella Miller Kids First Pediatric Research Program (Kids First). The overall goal of the Kids First program is to help researchers increase the current understanding of genetic changes associated with childhood cancer and structural birth defects, such as congenital heart defects, craniofacial anomalies, and skeletal/organ development malformities. Chil- dren with certain birth defects have an increased risk of developing some pediatric cancers, suggesting there could be shared biological pathways between the dis- eases. Because pediatric cancers and structural birth defects are relatively uncommon, the Kids First pro- gram pools together datasets from different centers that can be used to help discover shared genetic path- ways between these disorders.

Levy, along with collaborators at St. Jude Children’s Research Hospital, run a joint sequencing center for the programcalled the HudsonAlpha-St. Jude Genome Sequencing Center (HASJ-GSC). Under a grant renewal the team received in 2020, they will continue to expand access to state-of-the-art genome-scale analysis for thousands of samples from children with birth defects and childhood cancer. The team will generate clinical-grade genome sequencing and variant data for characterizing pediatric cancer genomes and for investigating the biological and molecular causes of birth defects and other non-tumor diseases. Importantly, the data will be accessible and available to the research community to be leveraged to its maximal impact for years to come. n

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