Article

Profiling the genome-wide landscape of tandem repeat expansions

2018-07-03

Abstract excerpt

Tandem Repeat (TR) expansions have been implicated in dozens of genetic diseases, including Huntington’s Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore, TRs have recently been implicated in a range of complex traits, including gene expression and cancer risk. While the human genome harbors hundreds of thousands of TRs, analysis of TR expansions has been mainly limited to known pathogenic loci. A...

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Literature Corpus work: b039911d-3fd5-5e48-aeb4-c04e89f1a55c
DOI: 10.1101/361162

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