Article

TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutations

2024-07-19

Abstract excerpt

<h4>Motivation</h4> Identifying de novo tandem repeat (TR) mutations on a genome-wide scale is essential for understanding genetic variability and its implications in rare diseases. While PacBio HiFi sequencing data enhances the accessibility of the genome’s TR regions for genotyping, simple de novo calling strategies often generate an excess of likely false positives, which can obscure true positive findings,...

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Literature Corpus work: 6568e2dd-9173-5450-b288-fd29c6ec5629
DOI: 10.1101/2024.07.16.600745

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