Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry
Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry
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DOI：
10.1016/j.mrfmmm.2004.11.004
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发表时间：
2005-03-01
影响因子：
2.3
通讯作者：
Thilly, WG
中科院分区：
文献类型：
--
作者：
Li-Sucholeiki, XC;Tomita-Mitchell, A;Thilly, WG
作为常见疾病风险遗传基础的DNA变异预计具有广泛的群体等位基因频率。罕见等位基因的检测和评分（频率为
DNA variants underlying the inheritance of risk for common diseases are expected to have a wide range of population allele frequencies. The detection and scoring of the rare alleles (at frequencies of