Department of Mathematics, South Kensington Campus, Imperial College London, London SW7 2AZ, UK.
Bioinformatics. 2013 Oct 1;29(19):2482-4. doi: 10.1093/bioinformatics/btt416. Epub 2013 Aug 7.
Recent major cancer genome sequencing studies have used whole-genome sequencing to detect various types of genomic variation. However, a number of these studies have continued to rely on SNP array information to provide additional results for copy number and loss-of-heterozygosity estimation and assessing tumour purity. OncoSNP-SEQ is a statistical model-based approach for inferring copy number profiles directly from high-coverage whole genome sequencing data that is able to account for unknown tumour purity and ploidy.
MATLAB code is available at the following URL: https://sites.google.com/site/oncosnpseq/.
最近的主要癌症基因组测序研究使用全基因组测序来检测各种类型的基因组变异。然而，其中一些研究仍然依赖 SNP 阵列信息来提供额外的结果，用于拷贝数和杂合性丢失的估计以及评估肿瘤纯度。OncoSNP-SEQ 是一种基于统计模型的方法，能够从高覆盖度全基因组测序数据中直接推断拷贝数谱，同时能够考虑未知的肿瘤纯度和倍性。
MATLAB 代码可在以下网址获得：https://sites.google.com/site/oncosnpseq/。
