Exploring the Impact of Single-Nucleotide Polymorphisms on Translation.
Exploring the Impact of Single-Nucleotide Polymorphisms on Translation.
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DOI：
10.3389/fgene.2018.00507
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发表时间：
2018
影响因子：
3.7
通讯作者：
Pelletier J
中科院分区：
文献类型：
--
作者：
Robert F;Pelletier J
在过去的 15 年里，人类基因组测序和癌症基因组图谱 (TCGA) 项目已经生成了大量人类样本中的单核苷酸多态性 (SNP) 和基因突变的综合列表。然而，我们预测 SNP 和突变对基因表达的功能影响的能力仍处于起步阶段。在这里，我们提供了关键示例来帮助理解基因中存在的突变如何影响翻译输出。
Over the past 15 years, sequencing of the human genome and The Cancer Genome Atlas (TCGA) project have led to comprehensive lists of single-nucleotide polymorphisms (SNPs) and gene mutations across a large number of human samples. However, our ability to predict the functional impact of SNPs and mutations on gene expression is still in its infancy. Here, we provide key examples to help understand how mutations present in genes can affect translational output.