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Genomic variation is the genetic basis of phenotypic diversity among individuals, including variation in disease susceptibility and drug response. The greatest promise of the International HapMap is to provide roadmaps for identifying genetic variants predisposing to complex diseases. Single nucleotide polymorphism (SNP) is the fundamental element of the HapMap. Allele frequency of SNPs is one of the major factors affecting the resulting HapMap, being the factor upon which linkage disequilibrium (LD) is calculated, haplotypes are constructed, and tagging SNPs (tagSNPs) are selected. The cutoff thresholds for the frequency of minor alleles used in the making of the map therefore have profound effects on the resolution of that map. To date most researchers have adopted their own cutoff thresh- olds, and there has been little real dataset-based evaluation of the effects of different cutoff thresholds on HapMap resolution. In an attempt to assess the implications of different cutoff values, we analyzed our own data for the centromeric genes on Chromosome 15 in Chinese Han and Tibetan populations, with respect to minor allele frequency cutoff values of 〉0.01 (0.01 group), 〉0.05 (0.05 group), and 〉0.10 (0.10 group), and constructed HapMaps from each of the datasets. The resolution, study power and cost-effectiveness for each of the maps were compared. Our results show that the 0.01 threshold provides the greatest power (P= 0.019 in Han and P= 0.029 in Tibetan for 0.01 vs. 0.05 threshold) and de- tects most population-specific haploypes (P= 0.012 for 0.01 vs. 0.05 threshold). However, in the regions studied, the 0.05 cutoff threshold did not significantly increase power above the 0.10 threshold (P = 0.191 in Han; 1.000 in Tibetans), and did not improve resolution over the 0.10 value for population- specific haplotypes (P= 0.592) neither. Furthermore the 0.05 and 0.10 values produced the same figures for tagging efficiency, LD block number, LD length, study power and cost-savings in the Tibetan population. These results suggest that a lower cutoff value is more appropriate for studies in which population-specific haplotypes are crucial, and that the most appropriate cutoff value may differ between populations. Due to the limited genes studied in this project more studies should be conducted to further address this important issue.  相似文献   
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介绍了热线式空气流量计的结构和工作原理,对其常见的故障进行了分析,并以维修实例说明此类故障的维修思路和维修方法。  相似文献   
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实验研究了极化电磁研磨装置的工艺参数,计算磁路和分析运动间隙的影响.结果表明,该装置结构简单、振动频率高,能够实现强力研磨.  相似文献   
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采用内置磁极吸附磁性磨粒的方法,研究了工艺参数对高效去除TC4钛合金孔毛刺和切痕,降低表面粗糙度Ra,以及改善微观表面形貌的影响.首先,开展磁极与孔同轴研磨正交试验,通过极差和方差分析,获得磁极转速、磨料直径和磨料填充量对孔表面粗糙度Ra和微观形貌的影响程度,确定了较优的工艺参数组合;其次,开展磁极与孔偏心研磨试验,进行了三维力检测和数据分析.结果表明:对于10mm的TC4钛合金孔,使用6mm的径向磁极,偏心距1mm研磨30min后,孔的毛刺和切痕得以去除,表面形貌均匀平整,与同轴方案比较,表面粗糙度Ra下降13.7%,研磨效率提升25.0%.  相似文献   
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