Article

Genome-wide detection of somatic mosaicism at short tandem repeats

2023-11-23

Abstract excerpt

<h4>Motivation</h4> Somatic mosaicism, in which a mutation occurs post-zygotically, has been implicated in several developmental disorders, cancers, and other diseases. Short tandem repeats (STRs) consist of repeated sequences of 1-6bp and comprise more than 1 million loci in the human genome. Somatic mosaicism at STRs is known to play a key role in the pathogenicity of loci implicated in repeat expansion disorde...

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Literature Corpus work: 24ea8396-26ec-56f2-8202-990c98260a09
DOI: 10.1101/2023.11.22.568371

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