Genome-wide profiling of heritable and de novo STR variations.

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data and report a genome-wide analysis and validation of de novo STR mutations.

短串联重复序列（STRs）是高度可变的元件，在多种遗传疾病、群体遗传学应用以及法医案例工作中起着关键作用。然而，从高通量测序数据对STRs进行基因分型已被证明存在问题。在此，我们描述了HipSTR，这是一种基于单倍型的新方法，用于对来自Illumina测序数据的STRs进行稳健的基因分型和定相，并报告了对从头STR突变的全基因组分析和验证。