Article
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.
Ophthalmic genetics - 1 Dec 2020
Xu Liya, Shen Lishuang, Polski Ashley, Prabakar Rishvanth K, Shah Rachana, Jubran Rima, Kim Jonathan W, Biegel Jacklyn, Kuhn Peter, Cobrinik David, Hicks James, Gai Xiaowu, Berry Jesse L
Abstract excerpt
BACKGROUND: Detection of germline RB1 mutations is critical for risk assessment of retinoblastoma (RB) patients. Assessment of somatic copy number alterations (SCNAs) is also critically important because of their prognostic significance. Herein we present a refined approach for the simultaneous identification of RB1 variants and SCNAs in the aqueous humor (AH) of RB eyes. MATERIALS AND METHODS: Subjects included...
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