Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays.
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DOI:
10.1186/gb-2009-10-11-r128
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发表时间:
2009
期刊:
影响因子:
12.3
通讯作者:
Stern MH
Stern MH
中科院分区:
生物学1区
文献类型:
--
作者:
Popova T;Manié E;Stoppa-Lyonnet D;Rigaill G;Barillot E;Stern MH

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GAP是一种用于从SNP阵列分析复杂癌症基因组谱的方法,即使在低质量数据和重排基因组的情况下也表现良好。我们描述了一种用于自动检测用单核苷酸多态性(SNP)阵列测量的复杂癌症基因组谱中的绝对片段拷贝数和基因型状态的方法。该方法是基于模式识别的分割和平滑的拷贝数和等位基因的不平衡配置文件。通过原发肿瘤的DNA指标和细胞系的核型分析,证实了上述结果。该方法即使对于低质量数据、低肿瘤含量和高度重排的肿瘤基因组也表现良好。
GAP, a method for analyzing complex cancer genome profiles from SNP arrays, performs well even with poor quality data and rearranged genomes We describe a method for automatic detection of absolute segmental copy numbers and genotype status in complex cancer genome profiles measured with single-nucleotide polymorphism (SNP) arrays. The method is based on pattern recognition of segmented and smoothed copy number and allelic imbalance profiles. Assignments were verified by DNA indexes of primary tumors and karyotypes of cell lines. The method performs well even for poor-quality data, low tumor content, and highly rearranged tumor genomes.
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