Article
Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma.
Genome research - 1 Sept 2020
Lopez Gonzalo, Conkrite Karina L, Doepner Miriam, Rathi Komal S, Modi Apexa, Vaksman Zalman, Farra Lance M, Hyson Eric, Noureddine Moataz, Wei Jun S, Smith Malcolm A, Asgharzadeh Shahab, Seeger Robert C, Khan Javed, Guidry Auvil Jaime, Gerhard Daniela S, Maris John M, Diskin Sharon J
Abstract excerpt
Neuroblastoma is a malignancy of the developing sympathetic nervous system that accounts for 12% of childhood cancer deaths. Like many childhood cancers, neuroblastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small insertions and deletions (indels) compared to adult cancers. Here, we assessed the contribution of somatic structural variation (SV) in neuroblastoma using a...
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