Supporting data for "TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data"

Tandem repeat sequences are widespread in the human genome and their expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches are needed to fully understand their roles in health and disease but resolving tandem repeat variation accurately remains a very challenging task. While traditional mapping-based approaches using short-read data have severe limitations in the size and type of tandem repeats they can resolve, recent third-generation sequencing technologies exhibit substantially higher sequencing error rates which complicates repeat resolution.<br>We developed TRiCoLOR, a freely-available tool for tandem repeat profiling using error-prone long reads from
third-generation sequencing technologies. The method can identify repetitive regions in sequencing data without a prior knowledge of their motifs or locations and resolve repeats multiplicity and period size in a haplotype-specifc manner. The tool includes methods to interactively visualize the identified repeats and to trace their Mendelian consistency in pedigrees.<br>TRiCoLOR demonstrates excellent performance and improved sensitivity and specificity compared to alternative tools on synthetic data. For real human whole-genome sequencing data, TRiCoLOR achieves high validation rates suggesting its suitability to identify tandem repeat variation in personal genomes.