With the increasing availability of long-read sequencing data, high-quality human genome assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping of tandem repeat loci on a population scale becomes more feasible. Such efforts not only expand our knowledge of the tandem repeat landscape in the human genome but also enhance our ability to differentiate pathogenic tandem repeat mutations from benign polymorphisms. To this end, we analyzed 272 genomes assembled using datasets from three public initiatives that employed different long-read sequencing technologies. Here, we report a catalog of over 18 million tandem repeat loci, many of which were previously unannotated. Some of these loci are highly polymorphic, and many of them reside within coding sequences.

The authors have declared no competing interest.

This study was supported by the Canadian Institutes of Health Research (CIHR) Project Grant (PJT-169074). I.-S.R.-B. is funded by the CIHR Research Excellence, Diversity, and Independence (REDI) Early Career Transition Award (DI2-190730).

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