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K6. Circular binary segmentation modeling of array CGH data on hepatocellular carcinoma

机译:K6。肝细胞癌阵列CGH数据的循环二进制分割建模

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Hepatocellular carcinoma (HCC) is a malignant tumor derived from hepatocytes that belong to primary malignant epithelial tumors of the liver. The outcome of HCC patients still remains dismal due to the difficulty in detecting the disease at its early stage. We propose a new approach aiming to identify new biomarkers for early diagnosis of HCC. Genomic DNA copy number alterations (CNAs) are associated with complex diseases like HCC. Array-based Comparative Genomic Hybridization (a-CGH) is a technique used to identify copy number changes in genomic DNA. We use a statistical model based on a circular binary segmentation (CBS) algorithm. Our approach makes use of a median absolute deviation model to separate outliers from their surrounding segments. We tested 35 samples of HCC patients on specific chromosome regions, then applied CBS algorithm to detect genomic DNA alternations in copy number. Our results show that a gain of 1q was detected in 63% and a gain of 20q was detected in 26% of HCC cases. Also, a loss of 4q was detected in 3%, a loss of 13q was detected in 29%, loss in 16q was detected in 9%, and loss of 17q was detected in 3% of HCC cases.
机译:肝细胞癌(HCC)是源自肝细胞的恶性肿瘤,肝细胞属于肝的原发性恶性上皮肿瘤。由于难以在早期发现该疾病,因此HCC患者的结局仍然令人沮丧。我们提出了一种新方法,旨在为肝癌的早期诊断识别新的生物标志物。基因组DNA拷贝数改变(CNA)与HCC等复杂疾病有关。基于阵列的比较基因组杂交(a-CGH)是一种用于识别基因组DNA拷贝数变化的技术。我们使用基于圆形二进制分段(CBS)算法的统计模型。我们的方法利用中值绝对偏差模型将离群值与其周围部分分开。我们在特定的染色体区域测试了35例HCC患者的样本,然后应用CBS算法来检测基因组DNA拷贝数的变化。我们的结果表明,在63%的HCC病例中检出1q的增益,在26%的病例中检出20q的增益。此外,在3%的HCC病例中,检测到4q的损失为3%,检测到13q的损失为29%,检测到16q的损失为9%,检测到17q的损失。

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