Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Bioinformatics. 2012 Oct 1;28(19):2543-5. doi: 10.1093/bioinformatics/bts479. Epub 2012 Jul 27.
zCall is a variant caller specifically designed for calling rare single-nucleotide polymorphisms from array-based technology. This caller is implemented as a post-processing step after a default calling algorithm has been applied. The algorithm uses the intensity profile of the common allele homozygote cluster to define the location of the other two genotype clusters. We demonstrate improved detection of rare alleles when applying zCall to samples that have both Illumina Infinium HumanExome BeadChip and exome sequencing data available.
http://atguweb.mgh.harvard.edu/apps/zcall.
Supplementary data are available at Bioinformatics online.
zCall 是一种专门设计用于从基于阵列的技术中调用罕见单核苷酸多态性的变异体调用程序。该调用程序是在应用默认调用算法之后作为后处理步骤实现的。该算法使用常见等位基因纯合子簇的强度分布来定义其他两种基因型簇的位置。当将 zCall 应用于既有 Illumina Infinium HumanExome BeadChip 又有外显子测序数据的样本时,我们证明了可以更有效地检测罕见等位基因。
http://atguweb.mgh.harvard.edu/apps/zcall。
补充数据可在Bioinformatics 在线获得。