Centre de Recherche, Institut Curie, 26 rue d'Ulm, Paris, 75248, France.
Genome Biol. 2009;10(11):R128. doi: 10.1186/gb-2009-10-11-r128. Epub 2009 Nov 11.
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.
我们描述了一种用于自动检测使用单核苷酸多态性(SNP)阵列测量的复杂癌症基因组图谱中的绝对片段拷贝数和基因型状态的方法。该方法基于分段和平滑拷贝数和等位基因失衡谱的模式识别。通过对原发肿瘤的 DNA 指数和细胞系的核型进行验证,对分配进行了验证。即使对于质量差、肿瘤含量低和高度重排的肿瘤基因组,该方法也能很好地执行。