Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of associated molecular traits and are linked to over 60 disease phenotypes. However, they are often excluded from at-scale studies because of challenges with variant calling and representation, as well as a lack of a genome-wide standard. Here, to promote the development of TR methods, we created a catalog of TR regions and explored TR properties across 86 haplotype-resolved long-read human assemblies. We curated variants from the Genome in a Bottle (GIAB) HG002 individual to create a TR dataset to benchmark existing and future TR analysis methods. We also present an improved variant comparison method that handles variants greater than 4 bp in length and varying allelic representation. The 8.1% of the genome covered by the TR catalog holds ~24.9% of variants per individual, including 124,728 small and 17,988 large variants for the GIAB HG002 ‘truth-set’ TR benchmark. We demonstrate the utility of this pipeline across short-read and long-read technologies.

串联重复序列 (TR) 在人类基因组中具有高度多态性，具有数千个相关分子特征，并与 60 多种疾病表型相关。然而，由于变异调用和代表性方面的挑战，以及缺乏全基因组标准，它们经常被排除在大规模研究之外。在这里，为了促进 TR 方法的发展，我们创建了 TR 区域目录，并探索了 86 个单倍型解析的长读人类组装体的 TR 特性。我们策划了瓶中基因组 (GIAB) HG002 个体的变体，以创建 TR 数据集来对现有和未来的 TR 分析方法进行基准测试。我们还提出了一种改进的变体比较方法，可处理长度大于 4 bp 的变体和不同的等位基因表示。 TR 目录覆盖的 8.1% 基因组包含每个个体约 24.9% 的变异，其中包括 GIAB HG002“真相集”TR 基准的 124,728 个小变异和 17,988 个大变异。我们展示了该管道在短读和长读技术中的实用性。