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Rare Variant burden testing on neuroblastoma patients using public cohort as Controls.

Melamed, Rachel Manon,Nayelis

Poster # 94

Neuroblastoma is a rare and deadly pediatric cancer affecting nerve cells, and finding mutations that can cause neuroblastoma can lead to potential treatments or early diagnosis of this disease. Because this cancer happens very young, there's a higher likelihood that a rare mutation might cause it. Our project is based on comparing sequences of neuroblastoma patients to find the rare variants that could be responsible for worse or adverse clinical outcomes for patients with this cancer.We will do this by using rare variant burden testing. To do the burden testing, the data must be prepared. We followed different steps. One of these was coverage harmonizations, a step in which we ensure enough coverage of all the positions across cases and controls; after we get our harmonized location, we can extract these locations from the DNA variants files. We used filters to get the rare variants based on the genetic frequency and sequencing artifacts. After getting our rare variants, we will use functionally silent variants to calibrate our burden testing, and then we will run our burden test on the functionally pertinent variants. This will assess the collective impact of genetic variants in a particular gene or set of genes on neuroblastoma patients. Overall the project will use all the different steps to get the appropriate files for us to find these specific genes that might impact this cancer; that way, we can target these genes for future treatments and early intervention of this disease.

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