MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data.

MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data.
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DOI:
10.1093/bioinformatics/btn242
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发表时间:
2008-07-15
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Tsunoda T
Tsunoda T
中科院分区:
其他
文献类型:
--
作者:
Kato M;Nakamura Y;Tsunoda T

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总结:从高通量实验数据中详细分析拷贝数变异(CNVs)的群体遗传性质以及CNV与单核苷酸多态性(SNP)位点之间的连锁不平衡,需要一种计算工具来准确推断CNVs的等位基因以及由CNV等位基因和SNP等位基因组成的单倍型。在这里,我们开发了一种新的工具来推断人口频率的等位基因和单倍型从观察到的拷贝数和SNP基因型,使用期望最大化算法。该工具还可以处理由于实验噪声而模糊确定的拷贝数,例如2或3个拷贝。可用性:http://emu.src.riken.jp/MOCSphaser/MOCSphaser.zip联系方式:tsunoda@src.riken.jp补充信息:其他材料可在http://emu.src.riken.jp/MOCSphaser/SuppInfor.doc上找到
Summary: Detailed analyses of the population-genetic nature of copy number variations (CNVs) and the linkage disequilibrium between CNV and single nucleotide polymorphism (SNP) loci from high-throughput experimental data require a computational tool to accurately infer alleles of CNVs and haplotypes composed of both CNV alleles and SNP alleles. Here we developed a new tool to infer population frequencies of such alleles and haplotypes from observed copy numbers and SNP genotypes, using the expectation–maximization algorithm. This tool can also handle copy numbers ambiguously determined, such as 2 or 3 copies, due to experimental noise. Availability: http://emu.src.riken.jp/MOCSphaser/MOCSphaser.zip Contact: tsunoda@src.riken.jp Supplementary information: Additional materials can be found at http://emu.src.riken.jp/MOCSphaser/SuppInfor.doc
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