Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome. Many STR loci have been associated with a range of human genetic disorders. We depicted a comprehensive map of 366,034 polymorphic STRs (pSTRs) constructed from 6,487 deeply sequenced genomes, comprising 3,983 Chinese samples (~31.5x, NyuWa) and 2,504 samples from the 1000 Genomes Project (~33.3x, 1KGP). This study represents one of the largest and latest genome-wide studies of STR variation in various populations and will further our understanding of how this mutagenesis impacts the human genome.
This database contains genome-wide information about copy number variation and other characteristics of polymorphic short tandem repeats (pSTRs) in humans including:
· LoF pSTR alleles: LoF_pSTR_alleles.txtShi, Y., Niu, Y., Zhang, P., Luo, H., Liu, S., Zhang, S., Wang, J., Li, Y., Liu, X., Song, T., Xu, T., & He, S. Characterization of genome-wide STR variation in 6,487 human genomes. Under review.