biostudies-literatureFearnley LGDHB FoundationMedical Research CouncilNational Health and Medical Research CouncilCitizens United for Research in Epilepsy13124https://www.ebi.ac.uk/biostudies/studies/S-EPMC9338934biostudies-literatureUnknown12(1)Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions in humans, but require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method that does not require alignment. superSTR is used to process whole-genome and whole-exome sequencing data, and perform the first STR analysis of the UK Biobank, efficiently screening and identifying known and potential disease-associated STRs in the exomes of 49,953 biobank participants. We demonstrate the first bioinformatic screening of RNA sequencing data to detect repeat expansions in humans and mouse models of ataxia and dystrophy.Scientific reportsDetection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.PMC9338934MC_PC_17228Senior Reearch Fellowship 1102971Centenary Postdoctoral Fellowship in Neurogenetic Systems BiologyTaking Flight AwardMC_QA137853Bahlo MBennett MFFearnley LGfalseDetection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions in humans, but require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method that does not require alignment. superSTR is used to process whole-genome and whole-exome sequencing data, and perform the first STR analysis of the UK Biobank, efficiently screening and identifying known and potential disease-associated STRs in the exomes of 49,953 biobank participants. We demonstrate the first bioinformatic screening of RNA sequencing data to detect repeat expansions in humans and mouse models of ataxia and dystrophy.2022-01-01T00:00:00Z2022 Jul2024-12-03T16:12:02.751Z2024-12-03T16:12:02.751ZS-EPMC93389343590793110.1038/s41598-022-17267-z