Genomes for Kids: The scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing

St. Jude Children's Research Hospital

St. Jude Children's Research Hospital

Dec 8, 2021


Whole Genome Sequencing
Whole Exome Sequencing
RNA Sequencing

Here, we display the variants detected in patient samples analysed as part of the St. Jude Genomes for Kids (G4K) study - employing a three- platform sequencing approach, including whole genome, exome, and RNA sequencing, for the analysis of tumor and germline samples from 253 prospectively identified children with newly diagnosed or relapsed/refractory cancers. As evident in the interactive oncoprint visualization below, the header displays different patient metadata along with groupings of samples into different blood, solid and brain tumor subtypes. Further, each row represents a different gene found in pathogenic or likely pathogenic fusions, enhancer hijackings, small intragenic deletions, insertions, frameshifts, missense, or nonsense genomic alteration events. This data is detailed in Supplemental Table S2 of the associated G4K publication Pubmed ID 34301788. By selecting a gene symbol along the y-axis of the visualization, creates a pop-up window detailing the genomic location of the various alteration events found within that gene. Note that the genomic scale is adjustable, if the alterations are not displayed within the initial scope of the pop-up window...

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