Article

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

2024-05-21

Abstract excerpt

Approximately 3% of the human genome consists of repetitive elements called tandem repeats (TRs), which include short tandem repeats (STRs) of 1–6bp motifs and variable number tandem repeats (VNTRs) of 7+bp motifs. TR variants contribute to several dozen mono- and polygenic diseases but remain understudied and “enigmatic,” particularly relative to single nucleotide variants. It remains comparatively challenging to...

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Literature Corpus work: 7570b5e6-d433-5976-818b-ed4ddfb7486b
DOI: 10.1101/2024.05.21.24307682

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