Data from: Genotyping HapSTR loci: phase determination from direct sequencing of PCR products

HapSTRs combine information from a microsatellite (or simple tandem repeat, STR) with one or more single nucleotide polymorphisms (SNPs) in the DNA sequence immediately flanking the STR. These loci may offer increased power for the estimation of demographic parameters, but also present some challenges for data collection and analysis. We describe a process for inferring HapSTR alleles, including the flanking haplotypes, STR alleles, and their phase relative to each other, directly from DNA sequence electropherograms of PCR products from heterozygous individuals. Our approach eliminates the need for more costly and time-consuming processes such as cloning or acrylamide gel electrophoresis to separate alleles prior to sequencing.单倍型串联重复序列（HapSTRs）将微卫星（microsatellite，又称简单串联重复序列，STR）的遗传信息，与其侧翼紧邻的DNA序列中的一个或多个单核苷酸多态性（SNPs）相结合。这类基因座在种群统计参数的估算中可提升分析效能，但同时也给数据采集与分析工作带来了若干挑战。本文阐述了一种可直接从杂合个体聚合酶链式反应（PCR）产物的DNA序列电泳图谱中，推断单倍型串联重复序列等位基因（包括侧翼单倍型、STR等位基因及其相互间的相位关系）的方法。我们提出的这一方法无需采用成本更高、耗时更久的流程，例如在测序前通过克隆或聚丙烯酰胺凝胶电泳分离等位基因。