Article

Insights from a genome-wide truth set of tandem repeat variation

2023-05-08

Abstract excerpt

Tools for genotyping tandem repeats (TRs) from short read sequencing data have improved significantly over the past decade. Extensive comparisons of these tools to gold standard diagnostic methods like RP-PCR have confirmed their accuracy for tens to hundreds of well-studied loci. However, a scarcity of high-quality orthogonal truth data limited our ability to measure tool accuracy for the millions of other loci t...

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Literature Corpus work: 6e1b457c-0db1-5925-94d7-e73b528b3452
DOI: 10.1101/2023.05.05.539588

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