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Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

机译:人类遗传疾病大拷贝数变异和热点的种群分析

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Because data from one large study of autism provided genomic coordinates for an exceptionally small fraction of CNVs (31 CNVs in 1562 samples) found in affected individuals, we have repeated the analysis summarized in Table 2 from our recent paper excluding data from that particular study. The new analysis includes CNVs from a total of 10,972 individuals: 5,674 controls as before, but only 5,298 affected individuals as compared to 6,860 in our previous analysis. The ranking among the top-scoring loci has changed slightly (see Alternate Table 2 below), and p values have uniformly decreased (suggesting stronger associations) with two exceptions: duplications at the VCFS locus went from p = 0.330 to 0.454 and duplications overlapping the Terminal 22 del syndrome region went from p = 0.160 to 0.167. The qualitative conclusions we made on the basis of the previous analysis and other evidence (that 3q29,16pl2, and 15q25 merit further investigation) have not changed. We believe the new analysis more accurately reflects CNV frequencies in individuals with neurologic disease
机译:因为一项来自大型自闭症研究的数据提供了在受影响个体中发现的一小部分CNV(在1562个样本中有31个CNV)的基因组座标,所以我们重复了最近论文表2中总结的分析,但不包括该特定研究的数据。新的分析包括来自总共10,972名个体的CNV:以前有5,674名对照,但只有5298名受影响的个体,而我们之前的分析中只有6,860名。得分最高的基因座之间的排名略有变化(请参见下面的替代表2),p值均一律下降(表明关联性更强),但有两个例外:VCFS基因座处的重复数从p = 0.330变为0.454,​​重复项与终端22 del综合征区域从p = 0.160变为0.167。我们根据先前的分析和其他证据(3q29、16pl2和15q25值得进一步研究)得出的定性结论没有改变。我们相信新的分析可以更准确地反映神经系统疾病患者的CNV频率

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