Article

STRipy: a graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data

2021-06-14

Abstract excerpt

Short tandem repeats (STRs) are highly polymorphic with high mutation rates and expansions of STRs have been implicated as the causal variant in diseases. The application of genome sequencing in patients has recently allowed many new discoveries with over 50 disease causing loci known to date. There are several tools which allow genotyping of STRs from high-throughput sequencing (HTS) data. However, running these...

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Literature Corpus work: ee527a1e-24e3-53c2-acb2-4d46afc56361
DOI: 10.1101/2021.06.13.448220

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