A new statistical method for haplotype reconstruction from population data
A new statistical method for haplotype reconstruction from population data
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DOI：
10.1086/319501
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发表时间：
2001-04-01
影响因子：
9.8
通讯作者：
Donnelly, P
中科院分区：
文献类型：
--
作者：
Stephens, M;Smith, NJ;Donnelly, P
当前常规的基因分型方法通常无法提供单倍型信息，而这对于精细尺度的分子遗传学数据的许多分析至关重要。单倍型可以通过实验手段，或者（部分地）通过对其他家庭成员进行基因分型来获得，但成本颇高。或者，可以使用一种统计方法来推断相位并重建单倍型。我们提出了一种新的统计方法，适用于来自群体样本的连锁基因座的基因型数据，该方法在很大程度上对现有算法进行了改进；与最接近的竞争算法相比，其错误率通常降低了50%以上。此外，我们的算法从绝对意义上来说表现良好，这表明通过实验手段或者对其他家庭成员进行基因分型来重建单倍型可能是对资源的低效利用。
Current routine genotyping methods typically do not provide haplotype information, which is essential for many analyses of fine-scale molecular-genetics data. Haplotypes can be obtained, at considerable cost, experimentally or (partially) through genotyping of additional family members. Alternatively, a statistical method can be used to infer phase and to reconstruct haplotypes. We present a new statistical method, applicable to genotype data at linked loci from a population sample, that improves substantially on current algorithms; often, error rates are reduced by >50%, relative to its nearest competitor. Furthermore, our algorithm performs well in absolute terms, suggesting that reconstructing haplotypes experimentally or by genotyping additional family members may be an inefficient use of resources.