Analysis of Human Triallelic SNPs by Next-Generation Sequencing
Analysis of Human Triallelic SNPs by Next-Generation Sequencing
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DOI：
10.1111/ahg.12114
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发表时间：
2015-07-01
影响因子：
1.9
通讯作者：
Ning, Guang
中科院分区：
文献类型：
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作者：
Cao, Min;Shi, Juan;Ning, Guang
尽管单核苷酸多态性 (SNP) 在遗传变异研究中已变得非常有用，但三基因 SNP 仍未完全了解。下一代测序 (NGS) 是一种在大量群体中鉴定三基因位点的有前景的方法。在这项研究中，我们探索了 221 名中国人的外显子组测序数据，平均深度为 70 倍。我们在研究样本中鉴定了 382,901 个 SNP，其中包括 2,002 个 (0.52%) 三等位点。在三等位基因 SNP 中，17.3% 是编码 SNP (cSNP)，78.3% 是新的。比较和分析表明，变异等位基因更有可能导致三等位点的非同义变异。此外，自然选择似乎会影响三等位基因的 SNP。然而，由于评估的样本量有限，需要更多的研究才能充分表征三基因 SNP 的特征。
Although single-nucleotide polymorphisms (SNPs) have become extremely useful in the study of geneticvariation, triallelic SNPs are still not fully understood. Next-generation sequencing (NGS) is a promising approach to identify triallelic sites in large populations. In this study, we explored exome sequencing data from 221 Chinese individuals, with an average depth of 70-fold. We identified 382,901 SNPs in the study samples, including 2,002 (0.52%) triallelic sites. Among the triallelic SNPs, 17.3% were coding SNPs (cSNPs) and 78.3% were novel. Comparison and analysis revealed that the variant alleles were more likely to result in nonsynonymous variation at triallelic sites. In addition, natural selection seemed to influence triallelic SNPs. However, with the limited sample size assessed, more studies will be required in order to fully characterize the features of triallelic SNPs.