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|Title:||Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment.||Austin Authors:||Fearnley, L G;Bennett, M F;Bahlo, M||Affiliation:||Epilepsy Research Centre..
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australia..
Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC, 3052, Australia..
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australia. email@example.com.. Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC, 3052, Australia. firstname.lastname@example.org..
|Issue Date:||30-Jul-2022||metadata.dc.date:||2022||Publication information:||Scientific Reports 2022; 12(1): 13124||Abstract:||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.||URI:||https://ahro.austin.org.au/austinjspui/handle/1/30621||DOI:||10.1038/s41598-022-17267-z||ORCID:||0000-0002-3561-6804||Journal:||Scientific reports||PubMed URL:||35907931||PubMed URL:||https://pubmed.ncbi.nlm.nih.gov/35907931/||Type:||Journal Article|
|Appears in Collections:||Journal articles|
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