Gymrek Melissa
Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA; Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA.
Curr Opin Genet Dev. 2017 Jun;44:9-16. doi: 10.1016/j.gde.2017.01.012. Epub 2017 Feb 16.
Short tandem repeats (STRs) are some of the fastest mutating loci in the genome. Tools for accurately profiling STRs from high-throughput sequencing data have enabled genome-wide interrogation of more than a million STRs across hundreds of individuals. These catalogs have revealed that STRs are highly multiallelic and may contribute more de novo mutations than any other variant class. Recent studies have leveraged these catalogs to show that STRs play a widespread role in regulating gene expression and other molecular phenotypes. These analyses suggest that STRs are an underappreciated but rich reservoir of variation that likely make significant contributions to Mendelian diseases, complex traits, and cancer.
短串联重复序列（STRs）是基因组中一些突变速度最快的位点。用于从高通量测序数据中准确分析STRs的工具，使得在数百个个体中对超过一百万个STRs进行全基因组检测成为可能。这些目录表明，STRs具有高度多等位基因性，并且可能比任何其他变异类型贡献更多的新生突变。最近的研究利用这些目录表明，STRs在调节基因表达和其他分子表型方面发挥着广泛作用。这些分析表明，STRs是一个未被充分认识但丰富的变异库，可能对孟德尔疾病、复杂性状和癌症有重大贡献。
