Article

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

2021-11-20

Abstract excerpt

Expansions of short tandem repeats (STRs) cause dozens of rare Mendelian diseases. However, STR expansions, especially those arising from repeats not present in the reference genome, are challenging to detect from short-read sequencing data. Such “novel” STRs include new repeat units occurring at known STR loci, or entirely new STR loci where the sequence is absent from the reference genome. A primary cause of dif...

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Literature Corpus work: ada83810-342c-5d44-a3cf-37b3b747e137
DOI: 10.1101/2021.11.18.469113

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