Article

Optical genome mapping enables accurate repeat expansion testing

2024-04-22

Abstract excerpt

<h4>ABSTRACT</h4> Short tandem repeats (STRs) are amongst the most abundant class of variations in human genomes and are meiotically and mitotically unstable which leads to expansions and contractions. STR expansions are frequently associated with genetic disorders, with the size of expansions often correlating with the severity and age of onset. Therefore, being able to accurately detect the total repeat expansi...

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Literature Corpus work: 799b472b-e17f-5854-86d9-8edc9d2124e1
DOI: 10.1101/2024.04.19.590273

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