We used ExpansionHunter Denovo (EHdn) [28], an efficient catalog-free method for genome-wide tandem repeat detection from short-read WGS data. We applied the density-based spatial clustering of applications with noise (DBSCAN) algorithm to identify TREs whose lengths were outliers compared with other members of the cohort [16, 29]. We defined rare TREs as TREs that were found in less than 0.1% of the 1000GP population controls. All genomic coordinates are given in NCBI Build 38/UCSC hg38. A detailed description of the detection methods is provided in Supplementary Methods.
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