Nature Communications · 4 authors, 1 centre
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This study used long-read sequencing to characterize complex tandem repeats (TRs) in 270 Japanese individuals. It found that complex TRs are abundant and difficult to impute, with their genetic divergence linked to recent replication slippage, and identified thousands of TR loci as candidates for association with human disorders.
The study analyzed long, accurate PacBio HiFi reads from 270 Japanese control samples to characterize complex tandem repeat (TR) structures. Using a high-precision algorithm, researchers identified approximately 322,000 TRs that are difficult to impute from surrounding single-nucleotide variants. They found that complex TRs are more abundant than single-unit TRs, and a tendency for complex TRs to consist of <10-bp units is statistically significant at loci with ≥500-bp TRs. Genetic divergence at TR loci was significantly correlated with events of younger replication slippage. The study provides insights into the landscape and diversity of long TRs, even in a genetically small population, but notes limitations such as potential selection of alleles during B-cell immortalization and uncertainty from moderate sequencing coverage.
