Article

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

2022-03-09

Abstract excerpt

Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and pre-clinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more severe disease. Interrupted alleles are sometimes present within repeats and can alter disease manifestation. Determining repeat size mosaicism and identifying inter...

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Literature Corpus work: 41092ee7-6e64-589a-8cd9-75d6402eca02
DOI: 10.1101/2022.03.08.483398

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